May 20, 2021 · 34017006; PMCID: PMC8591558; DOI: 10.1038/s41572-021-00267-0. Abstract. Phenylketonuria (PKU; also known as phenylalanine hydroxylase (PAH) ...
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Aug 8, 2023 · Phenylketonuria (PKU) is an inborn error of metabolism (IEM) most often caused by missense mutations in the gene encoding phenylalanine ...
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May 20, 2021 · Phenylketonuria (PKU; also known as phenylalanine hydroxylase (PAH, EC 1.14.16.1) deficiency (OMIM # 261600) and Følling disease) is an inborn ...
Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism caused by a deficiency in the hepatic enzyme phenylalanine hydroxylase (PAH).
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Jul 19, 2022 · This review discusses the epidemiology, pathophysiology, genetic etiology, and management of phenylketonuria (PKU).
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Apr 25, 2023 · Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood.
An overview of the submission details for the drug under review is provided in Table 1.
Feb 16, 2015 · This article reviews the symptoms, diagnosis, classification and strategies of treatment and management of phenylketonuria. Finally we review ...
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https://pubmed.ncbi.nlm.nih.gov/26919687/ This article states the basic facts about the genotypes of PKU and how there are approximately 950 known genotypic ...
Phenylketonuria (PKU) is an inborn error of metabolism (IEM) most often caused by missense mutations in the gene encoding phenylalanine hydroxylase (PAH) ...
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