Molecular Genetics & Genomic Medicine, 2020 Background Recently hyperphenylalaninemia (HPA) caused by variants in DNAJC12 was reported and this suggested a new strategy for diagnosis. But DNAJC12‐associated HPA is a rare in Chinese population so far.
Mengting Li +5 more
doaj +1 more source
Tetrahydrobiopterin, responsive, hyperphenylalaninemia without biopterin defiCIency [PDF]
Pteridines, 2000 Shintaku Haruo +3 more
doaj +2 more sources
Cost-effectiveness analysis of newborn screening for organic acidemias in Hong Kong [PDF]
, 2016 published_or_final_versio
Johnston, JM, Mak, CM, Ng, VHL
core
Inborn errors of metabolism: a clinical overview [PDF]
, 1999 CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core +4 more sources
Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness [PDF]
, 2013 Tetrahydrobiopterin (BH4) has been recently approved as a treatment of patients with phenylketonuria. However, as a confirmation of BH4-responsiveness, it might require a very expensive trial treatment with BH4 or prolonged BH4-loading procedures.
Bik-Multanowski, Mirosław +13 more
core +1 more source
A porcine model of phenylketonuria generated by CRISPR/Cas9 genome editing
JCI Insight, 2020 Phenylalanine hydroxylase–deficient (PAH-deficient) phenylketonuria (PKU) results in systemic hyperphenylalaninemia, leading to neurotoxicity with severe developmental disabilities.
Erik A. Koppes +25 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2023 Background The risk of neuropsychological disorders appears to be high in hyperphenylalaninemia (HPA). The hypothesis of executive function impairment is prominent in accounting for the neuropsychological phenotype in phenylketonuria (PKU) and is ...
Laetitia Paermentier +3 more
doaj +1 more source
Phenylketonuria: Protein content and amino acids profile of dishes for phenylketonuric patients. The relevance of phenylalanine [PDF]
, 2014 Phenylketonuria is an inborn error of metabolism, involving, in most cases, a deficient activity of phenylalanine hydroxylase. Neonatal diagnosis and a prompt special diet (low phenylalanine and natural-protein restricted diets) are essential to the ...
Almeida, Manuela F. +5 more
core +1 more source
PAH and QDPR deficiency associated mutations in the Novosibirsk region of the Russian Federation: Correlation of mutation type with disease manifestation and severity [PDF]
Journal of Medical Biochemistry, 2014 Background: Efficient treatment of inherited hyperphenylalaninemia requires exact identification of mutations defining the trait. Such knowledge is important both for effective individual therapy and understanding of the genetic history and evolution of ...
Baturina Olga A. +4 more
doaj
Tetrahydrobiopterin Deficiency: From Phenotype to Genotype
Pteridines, 1993 As a result of the selective screening worldwide during the last 18 years, approximately 250 patients with tetrahydrobiopterin deficiency were discovered.
Blau Nenad +3 more
doaj +1 more source