Five patients with a biotin-responsive defect in holocarboxylase formation: Evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro

Pediatric Research

Volumn 41, Issue 5, 1997, Pages 666-673

  Suormala, Terttu ^a   Fowler, Brian ^a   Duran, Marinus ^b   Burtscher, Alain ^f   Fuchshuber, Arno ^c   Tratzmüller, Robert ^d   Lenze, Michael J ^f   Raab, Klaus ^e   Baur, Barbara ^a   Wick, Hugo ^a   Baumgartner, Regula ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^d Children's Hospital   (Germany)

^e Cnopf'sche Kinderklinik   (Germany)

^f Basel ^*

Author keywords

[No Author keywords available]

Indexed keywords

BIOTIN; CARBOXYLASE;

ACIDURIA; ARTICLE; BIOCHEMISTRY; CATABOLISM; CLINICAL ARTICLE; COMPARATIVE STUDY; DISORDERS OF CARBOHYDRATE METABOLISM; ENZYME ACTIVITY; FIBROBLAST; HUMAN; HYPERAMMONEMIA; IN VITRO STUDY; IN VIVO STUDY; INFANT; METABOLIC ACIDOSIS; NEWBORN; ONSET AGE; PRIORITY JOURNAL;

EID: 0030983707     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/00006450-199705000-00011     Document Type: Article

References (26)

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