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Evaluation of orally administered PEGylated phenylalanine ammonia lyase in mice for the treatment of Phenylketonuria

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 ...

Study on urinary metabolic profile of phenylketonuria by micellar electrokinetic capillary chromatography with dual electrochemical detection potential clinical …

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

The spectrum of phenylketonuria genotypes in the Armenian population: Identification of three novel mutant PAH alleles

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 ...

… during critical postnatal period improves cognitive performances and promotes dendritic spine maturation in genetic mouse model of phenylketonuria

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 ...
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A retrospective analysis of synthetic protein prescription in Irish children with phenylketonuria

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 ...
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