Long-term follow-up of tetrahydrobiopterin therapy in patients with tetrahydrobiopterin deficiency in Japan
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health
Reference8 articles.
1. Disorders of tetrahydrobiopterin and related biogenic amines;Blau,2001
2. Disorders of tetrahydrobiopterin metabolism and their treatment;Shintaku;Curr Drug Metab,2002
3. Hyperphenylalaninemia;Shintaku,2009
4. Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene;Shintaku;Pediatr Res,2004
5. New variant of phenylketonuria with progressive neurological illness unresponsive to phenylalanine restriction;Smith;Lancet,1975
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1. Biochemical and molecular features of tetrahydrobiopterin deficiency in Fujian Province, southeastern China;Frontiers in Genetics;2023-08-11
2. Two Cases of 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Case Report and Literature Review;Children;2023-04-14
3. Mutation spectrum of PTS gene in patients with tetrahydrobiopterin deficiency from jiangxi province;Frontiers in Genetics;2022-12-13
4. Disorders of Tetrahydrobiopterin Metabolism: Experience from South India;Metabolic Brain Disease;2022-01-08
5. Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth;Molecular Genetics and Metabolism;2020-12
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