Aromatic Acids in Urine of Healthy Infants, Persistent Hyperphenylalaninemia, and Phenylketonuria, before and after Phenylalanine Load [PDF]
, 1974 Silvana K. Rampini +4 more
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Hyperphenylalaninemia as a cause of Autism Spectrum Disorder (ASD) in patients from the national neonatal screening program in a Northeastern Brazilian state [PDF]
, 2023 Raffaela Neves Mont’alverne Napoleão +8 more
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Hyperphenylalaninemia, BH4-deficient A [PDF]
, 2020 National Cancer Institute
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Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing [PDF]
, 2013 Daniel Trujillano +11 more
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873. Low Level Hepatocyte Repopulation Corrects Hyperphenylalaninemia in Murine Phenylketonuria [PDF]
, 2004 openalex +1 more source
Postprandial changes of amino acid and acylcarnitine concentrations in dried blood samples [PDF]
, 2018 Blood sampling for newborn screening cannot be standardized as for example blood collection in adults after an overnight fast. Therefore the influence of postprandial changes and individual variation is valuable information for the assessment of ...
Baumgartner, Matthias +8 more
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Tetrahydrobiopterin and inherited hyperphenylalaninemias.
The Turkish journal of pediatrics, 1996 Tetrahydrobiopterin deficiency, a variant of hyperphenylalaninemia, may be caused by deficiency of one of the following enzymes: guanosine triphosphate cyclohydrolase 1,6-pyruvoyltetrahydropterin synthase, dihydropteridin reductase and pterin-4a-carbinolamine dehydratase.
Blau N, Thony B, Spada M, Ponzone A
openaire +3 more sources
, 2004 Genome research is emerging as a new and important tool in biology used to obtain information on gene sequences, genomic interaction, and how genes work in concert to produce the final syndrome or phenotype. Defect in phenylalanine hydroxylase (PAH) gene
Matalon, Reuben +3 more
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557. Antisense Oligonucleotides Correct Aberrant PTS-Splicing: Therapeutic Potential To Treat Hyperphenylalaninemia and Brain Monoamine Neurotransmitter Deficiency [PDF]
, 2011 openalex +1 more source
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
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