Strategy for the screening of tetrahydrobiopterin deficiency among hyperphenylalaninaemic patients: 15‐Years experience

The Metabolic Basis of Inherited Disease.

1988 • 7,933 citations

The Metabolic Basis of Inherited Disease

1990 • 4,327 citations

Chemistry and biology of pteridines

1956 • 1,263 citations

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

1979 • 118 citations

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

1982 • 101 citations

A NEW MOLECULAR DEFECT IN PHENYLKETONURIA

1974 • 91 citations

Tetrahydrobiopterin deficiencies: Preliminary analysis from an international survey

1984 • 89 citations

Hyperphenylalaninemia Due to Dihydropteridine Reductase Deficiency: Diagnosis by Measurement of Oxidized and Reduced Pterins in Urine

1980 • 50 citations

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

1987 • 46 citations

Proceedings: Atypical phenylketonuria accompanied by a severe progressive neurological illness unresponsive to dietary treatment.

1974 • 43 citations

Diagnosis of variants of hyperphenylalaninemia by determination of pterins in urine

1981 • 43 citations

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

1988 • 35 citations

Differential Diagnosis of Variant Forms of Hyperphenylalaninemia

1980 • 24 citations

Early diagnosis of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (malignant hyperphenylalaninemia)

1980 • 16 citations

Pterins analysis in amniotic fluid for the prenatal diagnosis of GTP cyclohydrolase deficiency

1990 • 16 citations

Diagnosis of variant forms of hyperphenylalaninemia using filter paper spots of urine

1983 • 13 citations

Dihydropteridine reductase activity in eluates from dried blood spots: Automation of an assay for a national screening service

1989 • 13 citations

Partial dihydropteridine reductase deficiency and mental retardation

1986 • 6 citations

Neonatal screening for dihydropteridine reductase deficiency

1985 • 6 citations

Tetrahydrobiopterin deficient phenylketonuria detected by neonatal screening in Taiwan

1990 • 5 citations

[Metabolism of non-conjugated pteridines in man].

1989 • 4 citations

[Evaluation of 6-years' experience of screening for hyperphenylalaninemia caused by cofactor deficiency].

1986 • 3 citations

Hepatic phenylalanine hydroxylase and dietary tolerance in hyperphenylalaninaemic patients

1986 • 3 citations

[An attempt at classification of the hyperphenylalaninemias. Apropos of 62 patients].

1983 • 2 citations

Genetic analysis of partial dihydropteridine reductase deficiency in families with mental retardation

1986 • 1 citations

[Hyperphenylalaninemia in 1981. A diagnostic approach (author's transl)].

1981 • 1 citations

Deleted Work

1955 • 0 citations