Disorders of Tetrahydrobiopterin Metabolism

Analysis of reduced forms of biopterin in biological tissues and fluids

1980 • 713 citations

BIOSYNTHESIS AND METABOLISM OF TETRAHYDROBIOPTERIN AND MOLYBDOPTERIN

1985 • 542 citations

A New Pteridine-requiring Enzyme System for the Oxidation of Glyceryl Ethers

1964 • 294 citations

Hyperphenylalaninemia Due to a Deficiency of Biopterin

1978 • 190 citations

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

1984 • 174 citations

NEW VARIANT OF PHENYLKETONURIA WITH PROGRESSIVE NEUROLOGICAL ILLNESS UNRESPONSIVE TO PHENYLALANINE RESTRICTION

1975 • 142 citations

Age effect on dopamine and serotonin metabolite levels in cerebrospinal fluid

1980 • 124 citations

Hyperphenylalaninemia Due to Dihydropteridine Reductase Deficiency: Diagnosis by Enzyme Assays on Dried Blood Spots

1982 • 101 citations

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

1982 • 91 citations

Clinical role of pteridine therapy in tetrahydrobiopterin deficiency

1985 • 90 citations

Dystonia with marked diurnal variation associated with biopterin deficiency

1988 • 83 citations

Atypical Phenylketonuria With Normal Phenylalanine Hydroxylase and Dihydropteridine Reductase Activity in Vitro

1977 • 81 citations

A disorder of biogenic amines in dihydropteridine reductase deficiency

1978 • 74 citations

Cerebrospinal fluid neurotransmitter metabolites in neurologically normal infants and children.

1985 • 67 citations

Estimation of tetrahydrobiopterin and other pterins in cerebrospinal fluid using reversed-phase high-performance liquid chromatography with electrochemical and fluorescence detection

1986 • 67 citations

The hyperphenylalaninaemias

1985 • 62 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

?Peripheral? tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity

1987 • 46 citations

Tetrahydrobiopterin deficiency: assay for 6-pyruvoyl-tetrahydropterin synthase activity in erythrocytes, and detection of patients and heterozygous carriers

1988 • 46 citations

Excretion of pterins in phenylketonuria and phenylketonuria variants.

1980 • 41 citations

Prenatal diagnosis of ?dihydrobiopterin synthetase? deficiency, a variant form of phenylketonuria

1986 • 41 citations

Developmental aspects of pteridine metabolism and relationships with phenylalanine metabolism

1981 • 40 citations

Folinic acid therapy in treatment of dihydropteridine reductase deficiency

1987 • 40 citations

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

1984 • 40 citations

Hyperphenylalaniaemia due to dihydropteridine reductase deficiency

1978 • 37 citations

Analysis and clinical significance of pterins

1988 • 35 citations

Neonatal hyperphenylalaninaemia presumably caused by a new variant of biopterin synthetase defieiency

1988 • 35 citations

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

1980 • 32 citations

Tetrahydrobiopterin non‐responsiveness in dihydropteridine reductase deficiency is associated with the presence of mutant protein

1986 • 25 citations

A mild case of dihydropteridine reductase deficiency with residual activity in erythrocytes

1984 • 23 citations

Biosynthesis of tetrahydrobiopterin in man

1985 • 21 citations

Prenatal determination of dihydropteridine reductase in a normal fetus at risk for malignant hyperphenylalaninemia

1983 • 20 citations

Cranial computerized tomography in dihydropteridine reductase deficiency

1985 • 15 citations

Transient hyperphenylalaninaemia with a high neopterin to biopterin ratio in urine

1984 • 12 citations

Dihydropteridine reductase deficiency in an 18‐year‐old boy

1983 • 7 citations

Tetrahydrobiopterin deficiency. Lessons from the analysis of 90 patients collected in the international register

1987 • 3 citations

Biopterin, neopterin and tyrosine responses to combined oral phenylalanine and tetrahydrobiopterin loading tests in two normal children and in a girl with partial biopterin deficiency

1985 • 3 citations