CN Sarkissian, TS Kang, A Gámez… - Molecular Genetics and …, 2011 - Elsevier Phenylketonuria (PKU), a Mendelian autosomal recessive phenotype (OMIM 261600), is an inborn error of metabolism causing impaired postnatal cognitive development in the absence of treatment. We used the Pah enu2/enu2 PKU mouse model to study oral enzyme ...
D Zhang, W Li, J Zhang, W Tang, C Qian… - Analytica chimica …, 2011 - Elsevier The urinary metabolic marker compounds, namely phenylpyruvic acid (PPA), 2-hydroxyphenylacetic acid (oOPAA), 4-hydroxyphenylacetic acid (pOPAA), phenyllactic acid (PLA) and phenylacetic acid (PAA) of phenylketonuric individuals were detected by a novel method of micellar ... All 3 versions
N Kostandyan, C Britschgi, A Matevosyan… - Molecular Genetics and …, 2011 - Elsevier We present the spectrum of phenylalanine hydroxylase (PAH) gene mutations upon investigating 35 index patients identified with hyperphenylalaninemia in Armenia. One patient was diagnosed with dihydropteridine reductase (DHPR) deficiency, whereas all other 34 and their 6 ...
D Andolina, D Conversi, S Cabib… - The International …, 2011 - Cambridge Univ Press Abstract Although phenylketonuria (PKU) is the most common genetic cause of mental retardation, the cellular mechanisms underlying impaired brain function are still unclear. Using PAHenu2 mice (ENU2), the genetic mouse model of PKU, we previously demonstrated ... Related articles - All 9 versions
L O'Sullivan, F Boyle… - Journal of Human Nutrition …, 2011 - Wiley Online Library Background: Phenylketonuria (PKU) is an inherited inborn error of metabolism resulting in the inability of the patient to metabolise the essential amino acid (AA) phenylalanine (Phe) and convert it to tyrosine. Untreated, a build-up of Phe occurs that damages the brain and leads to ... Related articles
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