Atypical Phenylketonuria with Normal Dihydropteridine Reductase Activity

New England Journal of Medicine

Volumn 295, Issue 20, 1976, Pages 1138-1139

  Rey, Franoise ^a   Blandin Savoja, Flicienne ^a   Rey, Jean ^a  

^a NONE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DIHYDROPTERIDINE REDUCTASE; OXIDOREDUCTASE;

ENZYMOLOGY; HUMAN; LETTER; METABOLISM; PHENYLKETONURIA;

DIHYDROPTERIDINE REDUCTASE; HUMAN; NADH, NADPH OXIDOREDUCTASES; PHENYLKETONURIAS;

EID: 0017304706     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJM197611112952018     Document Type: Letter

References (6)

1. Brewster TG, Abroms IF, Kaufman S, et al: Atypical PKU, seizures and developmental delay with dihydropteridine reductase deficiency. Pediatr Res 10: 446, 1976
2. Danks DM, Cotton RGH, Schlesinger P: Variant forms of phenylketonuria. Lancet 1: 1236–1237, 1976
3. Kaufman S, Milstein S, Bartholomé K: New forms of phenylketonuria. Lancet 2: 708, 1975
4. Bartholomé K: A new molecular defect in phenylketonuria. Lancet 2: 1580, 1974
5. Leeming RJ, Blair JA, Rey F: Biopterin derivatives in atypical phenylketonuria. Lancet 1: 99–100, 1976
6. Nielsen KH, Simonsen V; Dihydropteridine reductase, a method for the measurement of activity and investigations of the specificity. Eur J Biochem 9: 497–502, 1969