Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up

Journal of Inherited Metabolic Disease

Volumn 32, Issue SUPPL. 1, 2009, Pages

  Kusmierska, K ^a   Jansen, E E W ^b   Jakobs, C ^b   Szymanska, K ^d   Malunowicz, E ^a   Meilei, D ^c   Thony, B ^c   Blau, N ^c   Tryfon, J ^d   Rokicki, D ^a   Pronicka, E ^a   Sykut Cegielska, J ^a  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^d INSTITUTE OF MOTHER AND CHILD   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

5 HYDROXYTRYPTOPHAN; ALCOHOL DEHYDROGENASE; BIOGENIC AMINE; LEVODOPA; SEPIAPTERIN REDUCTASE;

ARTICLE; CASE REPORT; DYSTONIA; ENZYMOLOGY; FEMALE; FOLLOW UP; GENETICS; HOMOZYGOTE; HUMAN; INBORN ERROR OF METABOLISM; METABOLISM; MISSENSE MUTATION; PRESCHOOL CHILD; PSYCHOLOGICAL ASPECT; PSYCHOMOTOR DISORDER;

5-HYDROXYTRYPTOPHAN; ALCOHOL OXIDOREDUCTASES; BIOGENIC AMINES; CHILD, PRESCHOOL; DYSTONIA; FEMALE; FOLLOW-UP STUDIES; HOMOZYGOTE; HUMANS; LEVODOPA; METABOLISM, INBORN ERRORS; MUTATION, MISSENSE; PSYCHOMOTOR DISORDERS;

EID: 84881061364     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-1009-4     Document Type: Article

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