Clinical role of pteridine therapy in tetrahydrobiopterin deficiency

The Metabolic Basis of Inherited Disease.

1988 • 7,933 citations

The Metabolic Basis of Inherited Disease

1983 • 757 citations

Folic Acid in Neurology, Psychiatry and Internal Medicine

1980 • 237 citations

GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia

1984 • 174 citations

The Phenylalanine Hydroxylating System from Mammalian Liver

1971 • 137 citations

Atypical phenylketonuria due to tetrahydrobiopterin deficiency. Diagnosis and treatment with tetrahydrobiopterin, dihydrobiopterin and sepiapterin

1979 • 118 citations

Folic Acid in Neurology, Psychiatry and Internal Medicine

1979 • 114 citations

Peripherally Administered Reduced Pterins Do Enter the Brain

1981 • 92 citations

Atypical phenylketonuria with defective biopterin metabolism. Monotherapy with tetrahydrobiopterin or sepiapterin, screening und study of biosynthesis in man

1982 • 91 citations

TETRAHYDROBIOPTERIN TREATMENT OF VARIANT FORM OF PHENYLKETONURIA

1975 • 79 citations

A disorder of biogenic amines in dihydropteridine reductase deficiency

1978 • 74 citations

Characterization of the dihydropterin reductase activity of pig liver methylenetetrahydrofolate reductase.

1980 • 73 citations

Serum folates in man.

1977 • 58 citations

Biopterin synthesis defect. Treatment with L-dopa and 5-hydroxytryptophan compared with therapy with a tetrahydropterin.

1984 • 54 citations

Tetrahydropterin therapy for hyperphenylalaninemia caused by defective synthesis of tetrahydrobiopterin

1983 • 49 citations

DIHYDROPTERIDINE REDUCTASE MAY FUNCTION IN TETRAHYDROFOLATE METABOLISM

1978 • 41 citations

Blood spots on Guthrie cards can be used for inherited tetrahydrobiopterin deficiency screening in hyperphenylalaninaemic infants.

1984 • 40 citations

Folates in human serum

1974 • 38 citations

A sibling case of hyperphenylalaninemia due to a deficiency of dihydropteridine reductase: Biochemical and pathological findings.

1980 • 32 citations

[Hyperphenylalaninaemia with normal phenylalanine-hydroxylase activity and a deficiency of tetrahydrobiopterin and dihydropteridine reductase].

1977 • 19 citations

PTERIN ADMINISTRATION AS A THERAPY FOR P.K.U. DUE TO DIHYDROPTERIDINE-REDUCTASE DEFICIENCY ?

1975 • 16 citations

A case of tetrahydrobiopterin deficiency due to a defective synthesis of dihydrobiopterin

1982 • 13 citations

New aspects in biopterin biosynthesis in man

1981 • 13 citations

Atypical phenylketonuria due to biopterin deficiency. Early treatment with tetrahydrobiopterin and neurotransmitter precursors, trials of monotherapy.

1982 • 10 citations

[Biopterin synthesis defects: complete deficiencies (reductase and synthetase)].

1983 • 8 citations

Deleted Work

1955 • 0 citations