Prenatal diagnosis of ?dihydrobiopterin synthetase? deficiency, a variant form of phenylketonuria
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References (7)
Phenylketonuria Due to a Deficiency of Dihydropteridine Reductase
1975 • 317 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
ATYPICAL PHENYLKETONURIA CAUSED BY 7, 8-DIHYDROBIOPTERIN SYNTHETASE DEFICIENCY
1979 • 95 citations
High-performance liquid chromatography with column switching for the analysis of biogenic amine metabolites and pterins
1984 • 78 citations
Atypical phenylketonuria with ?dihydrobiopterin synthetase? deficiency: Absence of phosphate-eliminating enzyme activity demonstrated in liver
1985 • 52 citations
A typical phenylketonuria due to biopterin deficiency--Diagnosis by assay of an enzyme involved in the synthesis of sepiapterin from dihydroneopterin triphosphate
1984 • 9 citations