Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: effect of oral phenylalanine loading.

Blau, N; Thöny, B; Renneberg, A; Penzien, J M; Hyland, K; Hoffmann, G F

Blau, N; Thöny, B; Renneberg, A; Penzien, J M; Hyland, K; Hoffmann, G F.

Affiliation

Blau N; Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Zürich, Switzerland. blau@kispi.unizh.ch

J Inherit Metab Dis ; 22(3): 216-20, 1999 May.

Article in En | MEDLINE | ID: mdl-10384371

Subject(s)

Phenylalanine/metabolism; Phenylketonurias; Administration, Oral; Biopterins/analogs & derivatives; Biopterins/metabolism; Child; Child, Preschool; Humans; Male; Phenylalanine/administration & dosage; Tyrosine/metabolism

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Collection: 01-internacional Database: MEDLINE Main subject: Phenylalanine / Phenylketonurias Limits: Child / Child, preschool / Humans / Male Language: En Journal: J Inherit Metab Dis Year: 1999 Document type: Article Affiliation country: Switzerland Country of publication: United States

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