BH4-deficient hyperphenylalaninemia in Russia

A timely detection of patients with tetrahydrobiopterin (BH4) -deficient types of hyperphenylalaninemia (HPABH4) is important for assignment of correct therapy, allowing to avoid complications. Often HPABH4 patients receive the same therapy as phenylalanine hydroxylase (PAH) -deficiency (phenylketon...

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Veröffentlicht in:	PloS one 2021-04, Vol.16 (4), p.e0249608-e0249608
Hauptverfasser:	Gundorova, Polina, Kuznetcova, Irina A, Baydakova, Galina V, Stepanova, Anna A, Itkis, Yulia S, Kakaulina, Victoria S, Alferova, Irina P, Lyazina, Lidya V, Andreeva, Lilya P, Kanivets, Ilya, Zakharova, Ekaterina Y, Kutsev, Sergey I, Polyakov, Aleksander V
Format:	Artikel
Sprache:	eng
Schlagworte:	Biology and life sciences Brain research Children Cognitive ability Deoxyribonucleic acid Dietary restrictions Dihydroxyphenylalanine DNA Dopamine Dystonia Editing Federal budgets Genetics Homology Hyperglycemia Medical research Medicine and Health Sciences Metabolism Methodology Mutation Neurotransmitters Pathogenesis Patients Phenotypes Phenylalanine Phenylalanine 4-monooxygenase Phenylketonuria Proteins Public health Research and analysis methods Research facilities Reviews Serotonin Signs and symptoms Social Sciences Tryptophan Tryptophan hydroxylase Tyrosine Tyrosine 3-monooxygenase
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