Pathogenesis of different clinical outcomes in spite of identical genotypes and comparable blood phenylalanine concentrations in phenylketonurics

Journal of Inherited Metabolic Disease

Volumn 21, Issue 2, 1998, Pages 181-182

  Weglage, J ^a   Wiedermann, D ^a   Moller H ^b   Ullrich, K ^c  

^a UNIVERSITY OF MÜNSTER   (Germany)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

^c UNIVERSITY OF HAMBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE;

ADOLESCENT; ADULT; AMINO ACID BLOOD LEVEL; AMINO ACID BRAIN LEVEL; ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; GENOTYPE; HUMAN; PATHOGENESIS; PHENYLKETONURIA; SIBLING;

ADOLESCENT; ADULT; BRAIN; GENOTYPE; HUMANS; PHENYLALANINE; PHENYLKETONURIAS;

EID: 0031960273     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005328717095     Document Type: Article

References (3)

1. Möller HE, Vermathen P, Ullrich K, Weglage J, Koch HG, Peters PE (1995) In-vivo NMR spectroscopy in patients with phenylketonuria: changes of cerebral phenylalanine levels under dietary treatment. Neuropediatrics 26: 199-202.
2. 1H magnetic resonance spectroscopy. Pediatr Res 5: 657-663.
3. Scriver CR, Kaufman S, Eisensmith RC, Woo SLC (1995) The hyperphenylalaninemias. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 1015-1076.