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Article

Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype.

Journal of inherited metabolic disease - 1 Jan 1990

Ponzone A, Blau N, Guardamagna O, Ferrero G B, Dianzani I, Endres W

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Identifiers

PMID: 1700190
DOI: 10.1007/BF01799379

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Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype.PMID 1700190Read ↗

Clinical, biochemical and molecular spectrum of mild 6-pyruvoyl-tetrahydropterin synthase deficiency and a case report.Semantic proximity Read ↗

Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency.Semantic proximity Read ↗

The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.Semantic proximity Read ↗

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Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS.Semantic proximity Read ↗

Sapropterin dihydrochloride, 6-R-L-erythro-5,6,7,8-tetrahydrobiopterin, in the treatment of phenylketonuria.Semantic proximity Read ↗

Mildly compromised tetrahydrobiopterin cofactor biosynthesis due to Pts variants leads to unusual body fat distribution and abdominal obesity in mice.Semantic proximity Read ↗

Peripheral neuropathy risk and a transcobalamin polymorphism: connecting the dots between excessive folate intake and disease susceptibility.Semantic proximity Read ↗

Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families.Semantic proximity Read ↗

Novel mutation affecting the pterin-binding site of PTS gene and review of PTS mutations in Thai patients with 6-pyruvoyltetrahydropterin synthase deficiency.Semantic proximity Read ↗

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Response of patients with phenylketonuria in the US to tetrahydrobiopterin.Semantic proximity Read ↗

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