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Google Keyword Rankings for : pku definition medical
1
Phenylketonuria (PKU) - Symptoms and causes - Mayo Clinic
https://www.mayoclinic.org/diseases-conditions/phenylketonuria/symptoms-causes/syc-20376302
Phenylketonuria (fen-ul-key-toe-NU-ree-uh), also called PKU, is a rare inherited disorder that causes an amino acid called phenylalanine to ...
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https://www.mayoclinic.org/diseases-conditions/phenylketonuria/symptoms-causes/syc-20376302
Phenylketonuria (fen-ul-key-toe-NU-ree-uh), also called PKU, is a rare inherited disorder that causes an amino acid called phenylalanine to ...
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2
Phenylketonuria - Genetics - MedlinePlus
https://medlineplus.gov/genetics/condition/phenylketonuria/
Phenylketonuria (PKU) is a type of amino acid metabolism disorder. It is inherited. If you have it, your body can't process phenylalanine (Phe) ...
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https://medlineplus.gov/genetics/condition/phenylketonuria/
Phenylketonuria (PKU) is a type of amino acid metabolism disorder. It is inherited. If you have it, your body can't process phenylalanine (Phe) ...
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3
Phenylketonuria (PKU): Symptoms, Causes & Treatment
https://my.clevelandclinic.org/health/diseases/17816-phenylketonuria
Phenylketonuria (PKU) is a genetic condition that causes elevated levels of a substance called phenylalanine to build up in your body.
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https://my.clevelandclinic.org/health/diseases/17816-phenylketonuria
Phenylketonuria (PKU) is a genetic condition that causes elevated levels of a substance called phenylalanine to build up in your body.
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4
Phenylketonuria - NHS
https://www.nhs.uk/conditions/phenylketonuria/
Phenylketonuria (PKU) is a rare but potentially serious inherited disorder. Our bodies break down the protein in foods, such as meat and fish, ...
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https://www.nhs.uk/conditions/phenylketonuria/
Phenylketonuria (PKU) is a rare but potentially serious inherited disorder. Our bodies break down the protein in foods, such as meat and fish, ...
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5
Phenylketonuria (PKU) | Boston Children's Hospital
https://www.childrenshospital.org/conditions/phenylketonuria-pku
Phenylketonuria (PKU) is a genetically determined metabolic disorder that is highly treatable with diet and supplements. It is an inherited disease in which ...
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https://www.childrenshospital.org/conditions/phenylketonuria-pku
Phenylketonuria (PKU) is a genetically determined metabolic disorder that is highly treatable with diet and supplements. It is an inherited disease in which ...
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6
Medical Definition of Phenylketonuria - RxList
https://www.rxlist.com/phenylketonuria/definition.htm
Phenylketonuria: The inherited inability to metabolize (process) the essential amino acid phenylalanine due to complete or near-complete deficiency of the ...
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https://www.rxlist.com/phenylketonuria/definition.htm
Phenylketonuria: The inherited inability to metabolize (process) the essential amino acid phenylalanine due to complete or near-complete deficiency of the ...
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7
Phenylketonuria: Causes, Symptoms, and Diagnosis
https://www.healthline.com/health/phenylketonuria
Phenylketonuria (PKU) is a rare genetic condition that causes an amino acid called phenylalanine to build up in the body. Amino acids are the building blocks of ...
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https://www.healthline.com/health/phenylketonuria
Phenylketonuria (PKU) is a rare genetic condition that causes an amino acid called phenylalanine to build up in the body. Amino acids are the building blocks of ...
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8
Phenylketonuria Definition & Meaning - Merriam-Webster
https://www.merriam-webster.com/dictionary/phenylketonuria
The meaning of PHENYLKETONURIA is an inherited metabolic disorder caused by an enzyme deficiency resulting in accumulation of phenylalanine and its ...
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https://www.merriam-webster.com/dictionary/phenylketonuria
The meaning of PHENYLKETONURIA is an inherited metabolic disorder caused by an enzyme deficiency resulting in accumulation of phenylalanine and its ...
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9
Phenylketonuria - Wikipedia
https://en.wikipedia.org/wiki/Phenylketonuria
Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. ... Untreated PKU can lead to ...
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https://en.wikipedia.org/wiki/Phenylketonuria
Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. ... Untreated PKU can lead to ...
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10
NPKUA > What is PKU > About PKU
https://npkua.org/What-is-PKU/About-PKU
Phenylketonuria (known as PKU) is an inherited metabolic disease affecting the brain through increased levels of a substance called phenylalanine (Phe) in ...
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https://npkua.org/What-is-PKU/About-PKU
Phenylketonuria (known as PKU) is an inherited metabolic disease affecting the brain through increased levels of a substance called phenylalanine (Phe) in ...
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11
Phenylketonuria - NORD (National Organization for Rare ...
https://rarediseases.org/rare-diseases/phenylketonuria/
Phenylketonuria (PKU) is an inborn error of metabolism that is detectable during the first days of life via routine newborn screening. PKU is characterized ...
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https://rarediseases.org/rare-diseases/phenylketonuria/
Phenylketonuria (PKU) is an inborn error of metabolism that is detectable during the first days of life via routine newborn screening. PKU is characterized ...
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12
What Is Phenylketonuria (PKU)? - Treatment - FamilyDoctor.org
https://familydoctor.org/condition/phenylketonuria-pku/
Phenylketonuria (PKU) is a rare genetic condition where babies are born unable to break down an amino acid called phenylalanine. This causes ...
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https://familydoctor.org/condition/phenylketonuria-pku/
Phenylketonuria (PKU) is a rare genetic condition where babies are born unable to break down an amino acid called phenylalanine. This causes ...
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13
PKU (Phenylketonuria) in your baby - March of Dimes
https://www.marchofdimes.org/find-support/topics/birth/pku-phenylketonuria-your-baby
Phenylketonuria (also called PKU) is a condition in which your body can't break down an amino acid called phenylalanine. Amino acids help build protein in ...
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https://www.marchofdimes.org/find-support/topics/birth/pku-phenylketonuria-your-baby
Phenylketonuria (also called PKU) is a condition in which your body can't break down an amino acid called phenylalanine. Amino acids help build protein in ...
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14
Phenylketonuria: Symptoms, tests, and treatment
https://www.medicalnewstoday.com/articles/317963
Phenylketonuria, commonly known as PKU, is a genetic condition that affects how the amino acid, phenylalanine, is broken down by the body. PKU ...
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https://www.medicalnewstoday.com/articles/317963
Phenylketonuria, commonly known as PKU, is a genetic condition that affects how the amino acid, phenylalanine, is broken down by the body. PKU ...
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15
Phenylketonuria - StatPearls - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK535378/
Phenylketonuria (PKU) is an inborn error of metabolism (IEM) most often caused by missense mutations in the gene encoding phenylalanine ...
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https://www.ncbi.nlm.nih.gov/books/NBK535378/
Phenylketonuria (PKU) is an inborn error of metabolism (IEM) most often caused by missense mutations in the gene encoding phenylalanine ...
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16
definition of phenylketonuria by Medical dictionary
https://medical-dictionary.thefreedictionary.com/phenylketonuria
PKU is the most serious form of a class of diseases referred to as "hyperphenylalaninemia," all of which involve above normal (elevated) levels of phenylalanine ...
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https://medical-dictionary.thefreedictionary.com/phenylketonuria
PKU is the most serious form of a class of diseases referred to as "hyperphenylalaninemia," all of which involve above normal (elevated) levels of phenylalanine ...
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17
What is Phenylketonuria (PKU)? - News Medical
https://www.news-medical.net/health/What-is-Phenylketonuria-(PKU).aspx
› health › What-is-Pheny...
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https://www.news-medical.net/health/What-is-Phenylketonuria-(PKU).aspx
› health › What-is-Pheny...
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18
Phenylketonuria (PKU) - Better Health Channel
https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/phenylketonuria-pku
PKU is a genetic disorder that prevents the normal breakdown of an amino acid found in most foods. Proteins are made up of building blocks called amino acids; ...
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https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/phenylketonuria-pku
PKU is a genetic disorder that prevents the normal breakdown of an amino acid found in most foods. Proteins are made up of building blocks called amino acids; ...
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19
Phenylketonuria - causes, symptoms, diagnosis ... - YouTube
https://www.youtube.com/watch?v=HYg0Id-C0uQ
Oct 30, 2019
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https://www.youtube.com/watch?v=HYg0Id-C0uQ
Oct 30, 2019
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20
Phenylketonuria (PKU) Treatment | Children's Pittsburgh
https://www.chp.edu/our-services/rare-disease-therapy/conditions-we-treat/pku
In children with PKU, levels of phenylalanine build up in the blood, leading to symptoms such as behavioral problems, developmental delays, and seizures.
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https://www.chp.edu/our-services/rare-disease-therapy/conditions-we-treat/pku
In children with PKU, levels of phenylalanine build up in the blood, leading to symptoms such as behavioral problems, developmental delays, and seizures.
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21
Phenylketonuria (PKU) (for Parents) - Nemours KidsHealth
https://kidshealth.org/en/parents/phenylketonuria.html
Phenylketonuria (PKU) is a metabolic disorder caused by a defect in the enzyme that breaks down an amino acid. PKU is treatable when it is found early.
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https://kidshealth.org/en/parents/phenylketonuria.html
Phenylketonuria (PKU) is a metabolic disorder caused by a defect in the enzyme that breaks down an amino acid. PKU is treatable when it is found early.
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22
Phenylketonuria - Newborn Screening Program - IDPH
http://www.idph.state.il.us/HealthWellness/fs/pku.htm
Definition. Phenylketonuria (PKU) is a disorder of amino acid metabolism that results in excess levels of phenylalanine in body fluids.
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http://www.idph.state.il.us/HealthWellness/fs/pku.htm
Definition. Phenylketonuria (PKU) is a disorder of amino acid metabolism that results in excess levels of phenylalanine in body fluids.
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23
Phenylketonuria (PKU) - Medscape Reference
https://emedicine.medscape.com/article/947781-overview
Lesser degrees of plasma phenylalanine elevation are often referred to as hyperphenylalaninemia. The American College of Medical Genetics and ...
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https://emedicine.medscape.com/article/947781-overview
Lesser degrees of plasma phenylalanine elevation are often referred to as hyperphenylalaninemia. The American College of Medical Genetics and ...
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24
The complete European guidelines on phenylketonuria
https://ojrd.biomedcentral.com/articles/10.1186/s13023-017-0685-2
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine ...
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https://ojrd.biomedcentral.com/articles/10.1186/s13023-017-0685-2
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine ...
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25
Comparative Effectiveness of Treatment for Phenylketonuria
https://effectivehealthcare.ahrq.gov/products/phenylketonuria/research-protocol
Definition of Terms. PKU: Phenylketonuria; “a rare metabolic disorder (and orphan disease) that usually results from a deficiency of a liver enzyme known as ...
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https://effectivehealthcare.ahrq.gov/products/phenylketonuria/research-protocol
Definition of Terms. PKU: Phenylketonuria; “a rare metabolic disorder (and orphan disease) that usually results from a deficiency of a liver enzyme known as ...
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26
Phenylketonuria | UF Health, University of Florida Health
https://ufhealth.org/phenylketonuria
Definition. Phenylketonuria (PKU) is a rare condition in which a baby is born without the ability to properly break down an amino acid called ...
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https://ufhealth.org/phenylketonuria
Definition. Phenylketonuria (PKU) is a rare condition in which a baby is born without the ability to properly break down an amino acid called ...
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27
PKU and Pterin Defects - Medical Home Portal
https://www.medicalhomeportal.org/diagnoses-and-conditions/pku-and-pterin-defects
Phenylketonuria (PKU) is a recessive disorder caused by deficiency in phenylalanine hydroxylase (PAH), the enzyme that converts the amino acid.
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https://www.medicalhomeportal.org/diagnoses-and-conditions/pku-and-pterin-defects
Phenylketonuria (PKU) is a recessive disorder caused by deficiency in phenylalanine hydroxylase (PAH), the enzyme that converts the amino acid.
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28
Classic phenylketonuria - Orphanet
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79254
A severe form of phenylketonuria (PKU) due to phenylalanine hydroxylase deficiency, an inborn error of amino acid metabolism, characterized in untreated ...
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https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79254
A severe form of phenylketonuria (PKU) due to phenylalanine hydroxylase deficiency, an inborn error of amino acid metabolism, characterized in untreated ...
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29
Phenylketonuria Definition & Meaning - Dictionary.com
https://www.dictionary.com/browse/phenylketonuria
Scientific definitions for phenylketonuria ... A genetic disorder in which the body lacks an enzyme necessary to metabolize phenylalanine to tyrosine. If ...
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https://www.dictionary.com/browse/phenylketonuria
Scientific definitions for phenylketonuria ... A genetic disorder in which the body lacks an enzyme necessary to metabolize phenylalanine to tyrosine. If ...
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30
Phenylketonuria (PKU) - Health Encyclopedia - URMC
https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=167&contentid=pku
This is a blood test to screen newborns for phenylketonuria (PKU). PKU is a condition that can cause brain damage and severe intellectual disability if it ...
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https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=167&contentid=pku
This is a blood test to screen newborns for phenylketonuria (PKU). PKU is a condition that can cause brain damage and severe intellectual disability if it ...
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31
Phenylalanine hydroxylase deficiency: diagnosis and ... - Nature
https://www.nature.com/articles/gim2013157
Phenylalanine hydroxylase deficiency, traditionally known as phenylketonuria, results in the accumulation of phenylalanine in the blood of ...
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https://www.nature.com/articles/gim2013157
Phenylalanine hydroxylase deficiency, traditionally known as phenylketonuria, results in the accumulation of phenylalanine in the blood of ...
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32
Phenylketonuria (PKU) - Children's Health Issues
https://www.msdmanuals.com/home/children-s-health-issues/hereditary-metabolic-disorders/phenylketonuria-pku
Phenylketonuria is caused by a lack of the enzyme needed to convert phenylalanine to tyrosine. · Symptoms include intellectual disability, seizures, nausea, ...
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https://www.msdmanuals.com/home/children-s-health-issues/hereditary-metabolic-disorders/phenylketonuria-pku
Phenylketonuria is caused by a lack of the enzyme needed to convert phenylalanine to tyrosine. · Symptoms include intellectual disability, seizures, nausea, ...
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33
Psychiatric and Cognitive Aspects of Phenylketonuria - Frontiers
https://www.frontiersin.org/articles/10.3389/fpsyt.2019.00561/full
Phenylketonuria (PKU) is a recessive disorder of phenylalanine metabolism due to mutations in the gene for phenylalanine hydroxylase (PAH).
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https://www.frontiersin.org/articles/10.3389/fpsyt.2019.00561/full
Phenylketonuria (PKU) is a recessive disorder of phenylalanine metabolism due to mutations in the gene for phenylalanine hydroxylase (PAH).
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34
The management of phenylketonuria in adult patients in Italy
https://www.tandfonline.com/doi/full/10.1080/03007995.2020.1847717
Phenylketonuria (PKU) is a rare autosomal recessive disorder caused by a deficiency of phenylalanine hydroxylase (PAH). Its prevalence is estimated to be 1: ...
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https://www.tandfonline.com/doi/full/10.1080/03007995.2020.1847717
Phenylketonuria (PKU) is a rare autosomal recessive disorder caused by a deficiency of phenylalanine hydroxylase (PAH). Its prevalence is estimated to be 1: ...
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35
Phenylketonuria | Winchester Hospital
https://www.winchesterhospital.org/health-library/article?id=102759
Phenylketonuria (PKU) is when a person does not have enough of the liver enzyme needed to break down an amino acid called phenylalanine. It can build up and ...
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https://www.winchesterhospital.org/health-library/article?id=102759
Phenylketonuria (PKU) is when a person does not have enough of the liver enzyme needed to break down an amino acid called phenylalanine. It can build up and ...
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36
What is PKU (Phenylketonuria)? Symptoms and diagnosis
https://www.apr.ch/apr-pharma-products/therapeutic-pharma/what-is-pku/
What is PKU (Phenylketonuria)? Symptoms and diagnosis. Phenylketonuria, or PKU for short, is a rare autosomal recessive inborn error of phenylalanine (Phe) ...
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https://www.apr.ch/apr-pharma-products/therapeutic-pharma/what-is-pku/
What is PKU (Phenylketonuria)? Symptoms and diagnosis. Phenylketonuria, or PKU for short, is a rare autosomal recessive inborn error of phenylalanine (Phe) ...
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37
Phenylketonuria - an overview | ScienceDirect Topics
https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/phenylketonuria
Impetus: Phenylketonuria (PKU) is a metabolic disorder caused by deficiency in the enzyme that converts the amino acid phenylalanine to the amino acid tyrosine.
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https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/phenylketonuria
Impetus: Phenylketonuria (PKU) is a metabolic disorder caused by deficiency in the enzyme that converts the amino acid phenylalanine to the amino acid tyrosine.
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38
Phenylketonuria (PKU) – Definition/Meaning - Drlogy
https://drlogy.com/medical-dictionary/phenylketonuria-pku
Explore Medical Terms from Medical Dictionary by A-Z Letter: 20000+ Medical & Health Terms for Doctors, students & patients from a medical dictionary. Our ...
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https://drlogy.com/medical-dictionary/phenylketonuria-pku
Explore Medical Terms from Medical Dictionary by A-Z Letter: 20000+ Medical & Health Terms for Doctors, students & patients from a medical dictionary. Our ...
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39
What is the diet for PKU? - University of Washington
https://depts.washington.edu/pku/about/diet.html
The diet for PKU consists of a phenylalanine-free medical formula and carefully measured amounts of fruits, vegetables, bread, pasta, and cereals.
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https://depts.washington.edu/pku/about/diet.html
The diet for PKU consists of a phenylalanine-free medical formula and carefully measured amounts of fruits, vegetables, bread, pasta, and cereals.
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40
Phenylketonuria
https://dph.illinois.gov/content/dam/soi/en/web/idph/files/publications/pku-2012.pdf
Definition Phenylketonuria (PKU) is a disorder of amino acid metabolism that ... low phenylalanine diet, which consists of a specialized medical formula in ...
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https://dph.illinois.gov/content/dam/soi/en/web/idph/files/publications/pku-2012.pdf
Definition Phenylketonuria (PKU) is a disorder of amino acid metabolism that ... low phenylalanine diet, which consists of a specialized medical formula in ...
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41
Phenylketonuria (PKU) - Symptoms, Causes and Treatment
https://healthlibrary.askapollo.com/phenylketonuria-pku-symptoms-causes-and-treatment/
Phenylketonuria (PKU) is a genetic condition, meaning it cannot be prevented. But an enzyme assay (a blood test that determines whether you ...
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https://healthlibrary.askapollo.com/phenylketonuria-pku-symptoms-causes-and-treatment/
Phenylketonuria (PKU) is a genetic condition, meaning it cannot be prevented. But an enzyme assay (a blood test that determines whether you ...
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42
NIH Consensus Statement on Phenylketonuria - AAFP
https://www.aafp.org/pubs/afp/issues/2001/0401/p1430.html
PKU, a form of hyperphenylalaninemia, is a rare metabolic disorder that is caused by a deficiency of the liver enzyme phenylalanine hydroxylase.
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https://www.aafp.org/pubs/afp/issues/2001/0401/p1430.html
PKU, a form of hyperphenylalaninemia, is a rare metabolic disorder that is caused by a deficiency of the liver enzyme phenylalanine hydroxylase.
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43
Phenylketonuria (PKU): Disease and Conditions - BioMarin
https://www.biomarin.com/our-motivation/diseases-and-conditions/pku/
Phenylketonuria (PKU) is an inherited metabolic disorder caused by a deficiency of the enzyme phenylalanine hydroxylase (PAH).
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https://www.biomarin.com/our-motivation/diseases-and-conditions/pku/
Phenylketonuria (PKU) is an inherited metabolic disorder caused by a deficiency of the enzyme phenylalanine hydroxylase (PAH).
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44
HEALTH AND SAFETY CODE CHAPTER 33 ...
https://statutes.capitol.texas.gov/Docs/HS/htm/HS.33.htm
(4) "Phenylketonuria" means an inherited condition that may cause severe mental retardation if not treated. (5) "Screening test" means a rapid analytical ...
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https://statutes.capitol.texas.gov/Docs/HS/htm/HS.33.htm
(4) "Phenylketonuria" means an inherited condition that may cause severe mental retardation if not treated. (5) "Screening test" means a rapid analytical ...
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45
Phenylketonuria - Symptoms, diagnosis and treatment
https://bestpractice.bmj.com/topics/en-us/867
Definition. Phenylketonuria (PKU) is an autosomal-recessive inborn error of amino acid metabolism characterized by elevated (typically >10 ...
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https://bestpractice.bmj.com/topics/en-us/867
Definition. Phenylketonuria (PKU) is an autosomal-recessive inborn error of amino acid metabolism characterized by elevated (typically >10 ...
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46
phenylketonuria | genetic metabolic disease | Britannica
https://www.britannica.com/science/phenylketonuria
phenylketonuria (PKU), also called phenylpyruvic oligophrenia, hereditary inability of the body to metabolize the amino acid phenylalanine.
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https://www.britannica.com/science/phenylketonuria
phenylketonuria (PKU), also called phenylpyruvic oligophrenia, hereditary inability of the body to metabolize the amino acid phenylalanine.
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47
Management of Phenylketonuria and Hyperphenylalaninemia
https://academic.oup.com/jn/article/137/6/1561S/4664874
by HO de Baulny · 2007 · Cited by 79 —
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https://academic.oup.com/jn/article/137/6/1561S/4664874
by HO de Baulny · 2007 · Cited by 79 —
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48
PKU Inheritance Overview & Examples - Study.com
https://study.com/learn/lesson/pku-inheritance-overview-examples-phenulketonuria.html
Phenylketonuria, or PKU, is a genetic condition where the afflicted individual is unable to metabolize the amino acid phenylalanine. PKU is ...
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https://study.com/learn/lesson/pku-inheritance-overview-examples-phenulketonuria.html
Phenylketonuria, or PKU, is a genetic condition where the afflicted individual is unable to metabolize the amino acid phenylalanine. PKU is ...
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49
Newborn screening information for classic phenylketonuria
https://www.babysfirsttest.org/newborn-screening/conditions/classic-phenylketonuria-pku
Phenylketonuria (PKU) is a condition in which the body cannot break down one of the amino acids found in proteins. PKU is considered an amino acid condition ...
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https://www.babysfirsttest.org/newborn-screening/conditions/classic-phenylketonuria-pku
Phenylketonuria (PKU) is a condition in which the body cannot break down one of the amino acids found in proteins. PKU is considered an amino acid condition ...
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50
phenylketonuria - Definition | OpenMD.com
https://openmd.com/define/phenylketonuria
Phenylketonuria (PKU) is an autosomal-recessive inborn error of amino acid metabolism characterized by elevated (typically >10 mg/dL) blood phenylalanine (phe), ...
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https://openmd.com/define/phenylketonuria
Phenylketonuria (PKU) is an autosomal-recessive inborn error of amino acid metabolism characterized by elevated (typically >10 mg/dL) blood phenylalanine (phe), ...
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51
Simplified Diet for nutrition management of phenylketonuria: A ...
https://onlinelibrary.wiley.com/doi/full/10.1002/jmd2.12106
Phenylketonuria (PKU) is an inherited metabolic disorder affecting the conversion of phenylalanine (Phe) to tyrosine. Medical nutrition ...
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https://onlinelibrary.wiley.com/doi/full/10.1002/jmd2.12106
Phenylketonuria (PKU) is an inherited metabolic disorder affecting the conversion of phenylalanine (Phe) to tyrosine. Medical nutrition ...
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52
PKU - Overview: Phenylalanine and Tyrosine, Plasma
https://www.mayocliniclabs.com/test-catalog/Overview/8380
Phenylketonuria: Evaluation of patients with hyperphenylalaninemia or monitoring effectiveness of dietary therapy. This test is not sufficient follow-up for ...
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https://www.mayocliniclabs.com/test-catalog/Overview/8380
Phenylketonuria: Evaluation of patients with hyperphenylalaninemia or monitoring effectiveness of dietary therapy. This test is not sufficient follow-up for ...
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53
Conventional Phenylketonuria Treatment - SciELO
https://www.scielo.br/j/jiems/a/sFs4VmxmmrxpWjXS3XxXYBy/?format=pdf&lang=en
mented with the Phe-free medical formula; when this is not pos- ... good metabolic control, which was defined as 240 цmol/L for.
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https://www.scielo.br/j/jiems/a/sFs4VmxmmrxpWjXS3XxXYBy/?format=pdf&lang=en
mented with the Phe-free medical formula; when this is not pos- ... good metabolic control, which was defined as 240 цmol/L for.
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54
Maternal Phenylketonuria | Pediatrics - AAP Publications
https://publications.aap.org/pediatrics/article/122/2/445/73049/Maternal-Phenylketonuria
Hyperphenylalaninemia may be defined as having a blood Phe concentration above the reference range (31–110 μmol/L [0.51–1.8 mg/dL], depending on ...
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https://publications.aap.org/pediatrics/article/122/2/445/73049/Maternal-Phenylketonuria
Hyperphenylalaninemia may be defined as having a blood Phe concentration above the reference range (31–110 μmol/L [0.51–1.8 mg/dL], depending on ...
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55
The readability of online health resources for phenylketonuria
https://link.springer.com/article/10.1007/s12687-020-00461-9
Phenylketonuria (PKU) is a condition that results in the build-up of phenylalanine in the blood. This can cause severe brain damage and ...
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https://link.springer.com/article/10.1007/s12687-020-00461-9
Phenylketonuria (PKU) is a condition that results in the build-up of phenylalanine in the blood. This can cause severe brain damage and ...
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56
Tyrosine Information | Mount Sinai - New York
https://www.mountsinai.org/health-library/supplement/tyrosine
People with PKU must avoid any phenylalanine in their diets. Because tyrosine is made from phenylalanine, people with PKU can be deficient in tyrosine.
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https://www.mountsinai.org/health-library/supplement/tyrosine
People with PKU must avoid any phenylalanine in their diets. Because tyrosine is made from phenylalanine, people with PKU can be deficient in tyrosine.
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57
Phenylketonuria: What Is It? - WebMD
https://www.webmd.com/digestive-disorders/phenylketonuria-overview
The most severe form of the disorder is called classic PKU. It happens when you have little or none of the enzyme that helps process Phe and ...
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https://www.webmd.com/digestive-disorders/phenylketonuria-overview
The most severe form of the disorder is called classic PKU. It happens when you have little or none of the enzyme that helps process Phe and ...
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58
Phenylketonuria: A Rare Genetic Condition - YourDNA
https://yourdna.com/phenylketonuria
Phenylketonuria (PKU) is a genetic disorder that can cause intellectual disability and other serious health problems. Read more about PKU in ...
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https://yourdna.com/phenylketonuria
Phenylketonuria (PKU) is a genetic disorder that can cause intellectual disability and other serious health problems. Read more about PKU in ...
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59
Phenylketonuria - Cancer Care of Western New York
https://www.cancercarewny.com/content.aspx?chunkiid=102759
Phenylketonuria · (PKU) · Definition · Causes · Risk · Symptoms · Diagnosis · Treatment.
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https://www.cancercarewny.com/content.aspx?chunkiid=102759
Phenylketonuria · (PKU) · Definition · Causes · Risk · Symptoms · Diagnosis · Treatment.
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60
Serum phenylalanine screening
https://www.ucsfbenioffchildrens.org/en/medical-tests/serum-phenylalanine-screening
Serum phenylalanine screening is a blood test to look for signs of the disease phenylketonuria (PKU). Learn more about this test or book an ...
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https://www.ucsfbenioffchildrens.org/en/medical-tests/serum-phenylalanine-screening
Serum phenylalanine screening is a blood test to look for signs of the disease phenylketonuria (PKU). Learn more about this test or book an ...
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61
OGC Opinion No. 10-12-03: Defining “Enteral Formula”
https://www.dfs.ny.gov/insurance/ogco2010/rg101203.htm
Is the CaminoPro drink, a protein product used to treat Phenylketonuria (“PKU”), a modified solid food as characterized by the Plan? Conclusions: 1. Yes. The ...
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https://www.dfs.ny.gov/insurance/ogco2010/rg101203.htm
Is the CaminoPro drink, a protein product used to treat Phenylketonuria (“PKU”), a modified solid food as characterized by the Plan? Conclusions: 1. Yes. The ...
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62
Phenylketonuria | Encyclopedia.com
https://www.encyclopedia.com/medicine/diseases-and-conditions/pathology/phenylketonuria
Phenylketonuria Definition Phenylketonuria (PKU) can be defined as a rare metabolic disorder caused by a deficiency in the production of the hepatic (liver) ...
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https://www.encyclopedia.com/medicine/diseases-and-conditions/pathology/phenylketonuria
Phenylketonuria Definition Phenylketonuria (PKU) can be defined as a rare metabolic disorder caused by a deficiency in the production of the hepatic (liver) ...
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63
Entry - #261600 - PHENYLKETONURIA; PKU - OMIM
https://www.omim.org/entry/261600
Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism resulting from a deficiency of phenylalanine hydroxylase (PAH; 612349), ...
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https://www.omim.org/entry/261600
Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism resulting from a deficiency of phenylalanine hydroxylase (PAH; 612349), ...
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64
Serum phenylalanine screening - UCSF Health
https://www.ucsfhealth.org/medical-tests/serum-phenylalanine-screening
Definition. Serum phenylalanine screening is a blood test to look for signs of the disease phenylketonuria (PKU).
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https://www.ucsfhealth.org/medical-tests/serum-phenylalanine-screening
Definition. Serum phenylalanine screening is a blood test to look for signs of the disease phenylketonuria (PKU).
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65
Amino Acid Metabolic Disorders
https://med.unr.edu/nsphl/newborn-screening/disorders/amino-acid-metabolic-disorders
› nsphl › newborn-screening › ami...
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https://med.unr.edu/nsphl/newborn-screening/disorders/amino-acid-metabolic-disorders
› nsphl › newborn-screening › ami...
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66
Metabolic Disorders - SCDHEC
https://scdhec.gov/sites/default/files/docs/Health/docs/NBS-MetabolicDisorders.pdf
Screening for PKU can also identify infants with benign hyperphenylalaninemia, ... Potential medical emergency when GALT is low and total.
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https://scdhec.gov/sites/default/files/docs/Health/docs/NBS-MetabolicDisorders.pdf
Screening for PKU can also identify infants with benign hyperphenylalaninemia, ... Potential medical emergency when GALT is low and total.
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67
Phenylketonuria
https://flipper.diff.org/app/items/info/611
Definition. Phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino ...
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https://flipper.diff.org/app/items/info/611
Definition. Phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino ...
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68
Phenylketonuria (PKU) - SlideShare
https://www.slideshare.net/DrLouay/phenylketonuria-pku-105988359
Phenylketonuria (PKU) : is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine.
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https://www.slideshare.net/DrLouay/phenylketonuria-pku-105988359
Phenylketonuria (PKU) : is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine.
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69
PKU Primer for Adolescents and Adults
https://www.newenglandconsortium.org/pku-primer-for-adolescents-and-adults
PKU or phenylketonuria is an inherited biochemical disorder that prevents a person from metabolizing the essential amino acid, phenylalanine. A person with PKU ...
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https://www.newenglandconsortium.org/pku-primer-for-adolescents-and-adults
PKU or phenylketonuria is an inherited biochemical disorder that prevents a person from metabolizing the essential amino acid, phenylalanine. A person with PKU ...
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70
Closing the Gaps in Care - E.S.PKU
https://www.espku.org/wp-content/uploads/2015/06/PKU_report_FINAL_v2_nomarks.pdf
Within this report, the term “treatment” is defined as dietary management and/or ... Gizewska for their time in reviewing the medical content of this report ...
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https://www.espku.org/wp-content/uploads/2015/06/PKU_report_FINAL_v2_nomarks.pdf
Within this report, the term “treatment” is defined as dietary management and/or ... Gizewska for their time in reviewing the medical content of this report ...
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71
Phenylketonuria (NORD) - Osmosis
https://www.osmosis.org/learn/Phenylketonuria_(NORD)
Phenylketonuria is an autosomal recessive genetic disorder which affects function of the phenylalanine hydroxylase enzyme. The degree of enzyme activity can ...
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https://www.osmosis.org/learn/Phenylketonuria_(NORD)
Phenylketonuria is an autosomal recessive genetic disorder which affects function of the phenylalanine hydroxylase enzyme. The degree of enzyme activity can ...
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72
MEDICAL FORMULA FOR INBORN ERRORS OF METABOLISM
https://www.bcbsm.com/amslibs/content/dam/public/mpr/mprsearch/pdf/2103917.pdf
Phenylketonuria (PKU) and medium-chain acyl-CoA dehydrogenase (MCAD) ... The U.S. Food and Drug Administration defined a medical food in the ...
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https://www.bcbsm.com/amslibs/content/dam/public/mpr/mprsearch/pdf/2103917.pdf
Phenylketonuria (PKU) and medium-chain acyl-CoA dehydrogenase (MCAD) ... The U.S. Food and Drug Administration defined a medical food in the ...
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73
Maternal Phenylketonuria (PKU) in Pregnancy - What to Expect
https://www.whattoexpect.com/pregnancy/pregnancy-health/maternal-phenylketonuria-pku-pregnancy/
What is phenylketonuria (PKU)?. PKU is a genetic condition in which your body is missing a special enzyme. This enzyme works to protect against ...
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https://www.whattoexpect.com/pregnancy/pregnancy-health/maternal-phenylketonuria-pku-pregnancy/
What is phenylketonuria (PKU)?. PKU is a genetic condition in which your body is missing a special enzyme. This enzyme works to protect against ...
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74
The Financial Burdens Associated with Managing PKU ...
https://thekeep.eiu.edu/cgi/viewcontent.cgi?referer=&httpsredir=1&article=3882&context=theses
management of the medical nutrition therapy in adults with PKU. ... Food and Drug Administration (FDA) definitions: medical formula, alternative.
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https://thekeep.eiu.edu/cgi/viewcontent.cgi?referer=&httpsredir=1&article=3882&context=theses
management of the medical nutrition therapy in adults with PKU. ... Food and Drug Administration (FDA) definitions: medical formula, alternative.
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75
phenylketonuria - English-Spanish Dictionary
https://www.wordreference.com/es/translation.asp?tranword=phenylketonuria
phenylketonuria ; Principal Translations ; Inglés, Español ; phenylketonuria n, technical (medicine: metabolic disorder), fenilcetonuria nf ...
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https://www.wordreference.com/es/translation.asp?tranword=phenylketonuria
phenylketonuria ; Principal Translations ; Inglés, Español ; phenylketonuria n, technical (medicine: metabolic disorder), fenilcetonuria nf ...
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76
Phenylketonuria - baby, symptoms, Definition, Description ...
http://www.healthofchildren.com/P/Phenylketonuria.html
Definition. Phenylketonuria (PKU) is a rare metabolic disorder caused by a deficiency in the production of the hepatic (liver) enzyme phenylalanine hydroxylase ...
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http://www.healthofchildren.com/P/Phenylketonuria.html
Definition. Phenylketonuria (PKU) is a rare metabolic disorder caused by a deficiency in the production of the hepatic (liver) enzyme phenylalanine hydroxylase ...
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77
Health Promotion Activities Plan PHENYLKETONURIA (PKU ...
https://www.pchc.org/images/PDFs/HPAPs/Phenylketonuria.pdf
It is not intended to replace medical advice. Any instructions given by the physician ... (Provide definition). The body does not produce a necessary enzyme ...
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https://www.pchc.org/images/PDFs/HPAPs/Phenylketonuria.pdf
It is not intended to replace medical advice. Any instructions given by the physician ... (Provide definition). The body does not produce a necessary enzyme ...
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78
Inborn errors of metabolism - Knowledge @ AMBOSS
https://www.amboss.com/us/knowledge/Inborn_errors_of_metabolism/
Phenylketonuria toggle arrow icon · Definition: inherited genetic disorder characterized by the accumulation of phenylalanine · Epidemiology: incidence is up to 1 ...
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https://www.amboss.com/us/knowledge/Inborn_errors_of_metabolism/
Phenylketonuria toggle arrow icon · Definition: inherited genetic disorder characterized by the accumulation of phenylalanine · Epidemiology: incidence is up to 1 ...
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79
The Genetic Landscape and Epidemiology of Phenylketonuria
https://www.cell.com/ajhg/pdfExtended/S0002-9297(20)30194-4
The severity of PKU is defined by daily Phe tolerance.4 ... metabolic disease have taught us the real meaning of medical research.
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https://www.cell.com/ajhg/pdfExtended/S0002-9297(20)30194-4
The severity of PKU is defined by daily Phe tolerance.4 ... metabolic disease have taught us the real meaning of medical research.
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80
A practical guide to the introduction and use of PKU start™, a ...
https://www.nestlemedicalhub.com/sites/default/files/2022-07/vitaflo-pku-start-practical-guide.pdf
Definition. Phe. PKU. PE. Phenylalanine. Phenylketonuria. Protein Equivalent. Breast milk/standard infant formula. Phe-free infant formula. PKU explore.
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https://www.nestlemedicalhub.com/sites/default/files/2022-07/vitaflo-pku-start-practical-guide.pdf
Definition. Phe. PKU. PE. Phenylalanine. Phenylketonuria. Protein Equivalent. Breast milk/standard infant formula. Phe-free infant formula. PKU explore.
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81
Phenylketonuria - WikiLectures
https://www.wikilectures.eu/w/Phenylketonuria
Template:Infobox - genetic disease Phenylketonuria (PKU) belongs in a category of inherited metabolic disorders and enzymopathies.
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https://www.wikilectures.eu/w/Phenylketonuria
Template:Infobox - genetic disease Phenylketonuria (PKU) belongs in a category of inherited metabolic disorders and enzymopathies.
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82
Phenylketonuria - Accredo
https://www.accredo.com/conditions/phenylketonuria
Phenylalanine is an “essential” amino acid, meaning it is only obtained through the diet. For an individual to inherit PKU, they must inherit a genetic ...
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https://www.accredo.com/conditions/phenylketonuria
Phenylalanine is an “essential” amino acid, meaning it is only obtained through the diet. For an individual to inherit PKU, they must inherit a genetic ...
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83
PKU diet and treatments for Phenylketonuria. What is PKU?
https://mdda.org.au/diagnosis/pku/
Definition. Phenylketonuria (PKU) is an autosomal recessive inherited disorder caused by the genetic mutation of the enzyme phenylalanine hydroxylase (PAH), ...
→ Check Latest Keyword Rankings ←
https://mdda.org.au/diagnosis/pku/
Definition. Phenylketonuria (PKU) is an autosomal recessive inherited disorder caused by the genetic mutation of the enzyme phenylalanine hydroxylase (PAH), ...
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84
Phenylketonuria Treatment Market 2021–Detailed Analysis of ...
https://www.medgadget.com/2021/09/phenylketonuria-treatment-market-2021-detailed-analysis-of-current-and-future-industry-figures-till-2027.html
Phenylketonuria (PKU) is the rare genetic condition caused due to increased phenylalanine levels in the blood. Excess phenylalanine amounts ...
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https://www.medgadget.com/2021/09/phenylketonuria-treatment-market-2021-detailed-analysis-of-current-and-future-industry-figures-till-2027.html
Phenylketonuria (PKU) is the rare genetic condition caused due to increased phenylalanine levels in the blood. Excess phenylalanine amounts ...
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85
Homology Medicines Announces FDA Clearance of ...
https://www.homologymedicines.com/news-story/homology-medicines-announces-fda-clearance-of-investigational-new-drug-appl
PKU is a rare, inherited inborn error of metabolism caused by a mutation in the PAH gene. The current standard of care is a highly restrictive ...
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https://www.homologymedicines.com/news-story/homology-medicines-announces-fda-clearance-of-investigational-new-drug-appl
PKU is a rare, inherited inborn error of metabolism caused by a mutation in the PAH gene. The current standard of care is a highly restrictive ...
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86
Phenex®-2 - Abbott Nutrition
https://www.abbottnutrition.com/our-products/phenex-2
Phenex®-2. Amino acid-modified medical food. Nutrition support of children and adults with phenylketonuria (PKU). Use under medical supervision.
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https://www.abbottnutrition.com/our-products/phenex-2
Phenex®-2. Amino acid-modified medical food. Nutrition support of children and adults with phenylketonuria (PKU). Use under medical supervision.
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87
PKU Podcast Script.pdf - PedsCases
https://www.pedscases.com/sites/default/files/PKU%20Podcast%20Script.pdf
Define PKU and explain its pathophysiology. 2. Describe the historical importance of PKU in modern medicine. 3. Explain the diagnosis and management options ...
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https://www.pedscases.com/sites/default/files/PKU%20Podcast%20Script.pdf
Define PKU and explain its pathophysiology. 2. Describe the historical importance of PKU in modern medicine. 3. Explain the diagnosis and management options ...
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88
Assessment of Adult Phenylketonuria - SAGE Journals
https://journals.sagepub.com/doi/pdf/10.1177/000456320103800502
Phenylketonuria (PKU) has been detected on the newborn screening ... were no longer under regular medical or dietetic ... often not clearly defined.
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https://journals.sagepub.com/doi/pdf/10.1177/000456320103800502
Phenylketonuria (PKU) has been detected on the newborn screening ... were no longer under regular medical or dietetic ... often not clearly defined.
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89
The Guthrie Test for Early Diagnosis of Phenylketonuria
https://embryo.asu.edu/pages/guthrie-test-early-diagnosis-phenylketonuria
Phenylketonuria (PKU) is a congenital birth abnormality in which toxic levels of the amino acid phenylalanine build up in the blood, a process ...
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https://embryo.asu.edu/pages/guthrie-test-early-diagnosis-phenylketonuria
Phenylketonuria (PKU) is a congenital birth abnormality in which toxic levels of the amino acid phenylalanine build up in the blood, a process ...
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90
Newborn Screening Tests | Children's Hospital of Philadelphia
https://www.chop.edu/conditions-diseases/newborn-screening-tests
Phenylketonuria (PKU). PKU is an inherited disease in which the body cannot metabolize a protein called phenylalanine. It is estimated that one in every 10,000 ...
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https://www.chop.edu/conditions-diseases/newborn-screening-tests
Phenylketonuria (PKU). PKU is an inherited disease in which the body cannot metabolize a protein called phenylalanine. It is estimated that one in every 10,000 ...
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91
Newborn Metabolic Screening - Stanford Children's Health
https://www.stanfordchildrens.org/en/topic/default?id=newborn-metabolic-screening-160-57
One of these disorders is known as phenylketonuria, or PKU. The blood test for PKU finds out if your baby's body can process a substance called phenylalanine.
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https://www.stanfordchildrens.org/en/topic/default?id=newborn-metabolic-screening-160-57
One of these disorders is known as phenylketonuria, or PKU. The blood test for PKU finds out if your baby's body can process a substance called phenylalanine.
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92
Evidence review: Sapropterin for phenylketonuria - NICE
https://www.nice.org.uk/Media/Default/About/NICE-Communities/Medicines-prescribing/ER-NHSE-sapropterin-PKU.pdf
blood phenylalanine goals defined for an individual patient by the treating ... assessed response to sapropterin treatment before starting the medicine,.
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https://www.nice.org.uk/Media/Default/About/NICE-Communities/Medicines-prescribing/ER-NHSE-sapropterin-PKU.pdf
blood phenylalanine goals defined for an individual patient by the treating ... assessed response to sapropterin treatment before starting the medicine,.
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93
Screening for Phenylketonuria (PKU)
https://www.uspreventiveservicestaskforce.org/home/getfilebytoken/JAwo2Yr-cX34rvoZyxZWbp
Medical Genetics recommends that PKU screening be mandated as part of state ... The net benefit is defined as benefit minus harm of the.
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https://www.uspreventiveservicestaskforce.org/home/getfilebytoken/JAwo2Yr-cX34rvoZyxZWbp
Medical Genetics recommends that PKU screening be mandated as part of state ... The net benefit is defined as benefit minus harm of the.
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94
PKU.doc - cloudfront.net
https://d32ogoqmya1dw8.cloudfront.net/files/introgeo/teachingwdata/examples/PKU.doc
If a point mutation results in the formation of a stop codon then the abbreviation TER is shown. If you have one of these mutations, indicate which specific ...
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https://d32ogoqmya1dw8.cloudfront.net/files/introgeo/teachingwdata/examples/PKU.doc
If a point mutation results in the formation of a stop codon then the abbreviation TER is shown. If you have one of these mutations, indicate which specific ...
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95
Phenylketonurics - Contains Phenylalanine!
https://www.stsci.edu/~tbeck/whatis.html
People that have the disorder PKU cannot consume any product that contains ... of the true meaning of the warning label on diet soda are - Do I have PKU?
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https://www.stsci.edu/~tbeck/whatis.html
People that have the disorder PKU cannot consume any product that contains ... of the true meaning of the warning label on diet soda are - Do I have PKU?
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96
Phenylalanine requirement in children with classical PKU ...
https://journals.physiology.org/doi/full/10.1152/ajpendo.0319.2001
Dietary restriction of phenylalanine is the main treatment for phenylketonuria (PKU), and current estimates of requirements are based on plasma ...
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https://journals.physiology.org/doi/full/10.1152/ajpendo.0319.2001
Dietary restriction of phenylalanine is the main treatment for phenylketonuria (PKU), and current estimates of requirements are based on plasma ...
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