Phenylketonuria google scholar
WebFeb 1, 2009 · A historical classic on the teratogenic effects of prenatal exposure to phenylketonuria, the paper that raised attention to the unexpected effects of maternal PKU. Google Scholar National Institutes of Health .
Phenylketonuria google scholar
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WebThis "Cited by" count includes citations to the following articles in Scholar. The ones marked * may be different from the article in the profile. Add co-authors Co-authors. Follow. New articles by this author. ... Peking University Verified email at pku.edu.cn. Jie Zhang Professor of Computer Science and Engineering, ... WebAug 1, 2024 · BACKGROUND. Evidence to guide treatment of pediatric medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency and phenylketonuria (PKU) is fragmented because of large variability in outcome selection and measurement. Our goal was to develop core outcome sets (COSs) for these diseases to facilitate meaningful future evidence …
WebFeb 28, 2024 · Phenylketonuria (PKU) is a rare autosomal recessive condition characterized by an inability to metabolize the amino acid phenylalanine. The most common variation of … WebJul 1, 2013 · Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine ... View PDF View article View in Scopus Google Scholar [24] P.J. Anderson, V. Leuzzi. White matter pathology in phenylketonuria. Mol Genet Metab, 99 (1) (2010), pp. S3-S9. View PDF View …
WebMar 1, 2016 · Phenylketonuria (PKU) is a rare metabolic disorder characterized by impaired conversion of phenylalanine (Phe) to tyrosine. If left untreated, the resultant accumulation … WebPhenylketonuria (PKU; OMIM 261600) is an inborn error of metabolism caused predominantly by mutations in the phenylalanine hydroxylase (PAH) gene (1). Mutations …
WebSep 6, 2024 · Google Scholar Bickel H, Gerrard J, Hickmans E. Influence of phenylalanine intake on phenylketonuria. Lancet. 1953;265(6790):812–3. Article CAS Google Scholar Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations in newborn infants.
WebJul 24, 2024 · PKU is inherited in an autosomal recessive pattern. Recessive genetic disorders occur when an individual inherits an abnormal gene from each parent. If an … great white v tiger sharkWebDec 18, 2024 · Phenylketonuria (PKU) is a rare, metabolic genetic disorder that can cause various neuropsychological symptoms that often affect patients’ health-related quality of life, even for patients with good metabolic control. ... Article CAS Google Scholar Waisbren SE, Noel K, Fahrbach K, et al. Phenylalanine blood levels and clinical outcomes in ... florida teacher average salaryWebJul 24, 2024 · Phenylketonuria (PKU), which is characterized by a deficiency of phenylalanine hydroxylase activity, is an autosomal recessive disorder of phenylalanine (Phe) metabolism. ... EBSCO, CINAHL, Cochrane Library, national online databases and the Google Scholar search engine. Heterogeneity among studies was assessed by I 2 index … great white wall rainbow reefWebJul 26, 2024 · Phenylalanine hydroxylase (PAH) deficiency, commonly referred as phenylketonuria, is an inherited metabolic disease characterized by a decreased activity of the mentioned enzyme that breaks down the amino acid (AA) phenylalanine (Phe) to tyrosine (Tyr). The disorder is characterized by high Phe blood levels resulting in intellectual … florida teacher assaulted by 5 year oldWebJun 1, 2007 · Abstract. A favorable response, indicated by decline of blood phenylalanine (Phe) in patients with phenylketonuria (PKU), to orally administered 6-R-L-erythro-5, 6, 7, 8-tetrahydrobiopterin (BH4) has been reported in many countries following the first publication in 1999. In this review, we describe the experience in the United States with PKU ... florida teacher apprenticeship programWebOct 11, 2024 · Phenylketonuria (PKU) is a genetic disorder with amino acid metabolic defect, which does great harms to the development of newborns and children. Early … florida teacher beaten over nintendoWebThe normal range of blood phenylalanine concentrations is 50–110 μmol/L. Individuals with blood phenylalanine concentrations of 120–600 μmol/L before starting treatment are classified as having mild hyperphenylalaninaemia; those with concentrations of 600–1200 μmol/L are classified as mild phenylketonuria (sometimes a moderate ... great white warm blooded