Phenylketonuria and glycogen storage disease type III in sibs of one family
The Turkish Journal of Pediatrics, 2002 Hyperphenylalaninemia result from a block in the conversion of phenylalanine into tyrosine due to a defect in either the enzyme phenylalanine hydroxylase (98% of subjects) or in the metabolism of the cofactor tetrahydrobiopterin.
Tuncay Yilmazer +5 more
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119. Long-Term Correction of Hyperphenylalaninemia in a Mouse Model for PKU by Intramuscular Delivery of AAV Expressing PAH with Serotypes 1, 2 or 8 [PDF]
, 2008 openalex +1 more source
Long-Term Metabolic Correction of Phenylketonuria by AAV-Delivered Phenylalanine Amino Lyase
Molecular Therapy: Methods & Clinical Development, 2020 Phenylketonuria (PKU) is an inherited metabolic disorder caused by mutation within phenylalanine hydroxylase (PAH) gene. Loss-of-function of PAH leads to accumulation of phenylalanine in the blood/body of an untreated patient, which damages the ...
Rui Tao +8 more
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The prevalence of phenylketonuria among children with mental retardation in Kelantan [PDF]
, 2001 The prevalence of phenylketonuria (PKU) in Malaysia to date is not known since no study has been conducted to address the subject. The objectives of this study were to determine the prevalence of PKU among the mentally retarded children in Kelantan, to ...
Omar, Julia
core +1 more source
The Molecular Basis of Phenylketonuria and Hyperphenylalaninemia in Latvia. Summary of the Doctoral Thesis [PDF]
, 2012 Proņina Nataļja
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Haplotype-based Noninvasive Prenatal Diagnosis of Hyperphenylalaninemia through Targeted Sequencing of Maternal Plasma [PDF]
, 2018 Jun Ye +8 more
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Expression analysis of mutation P244L, which causes mild hyperphenylalaninemia
, 1995 Belén Pérez +2 more
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Newborn PKU screening in Turkey: at present and organization for future
The Turkish Journal of Pediatrics, 2001 At present, pkenylketonuria screening is a national child health program in Turkey which is carried out collaboratively by the Ministry of Health and three University Children's Hospitals in Ankara, Istanbul and Izmir.
I Ozalp +8 more
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