Holocarboxylase synthetase deficiency: Report of a case with onset in late infancy

Journal of Inherited Metabolic Disease

Volumn 22, Issue 2, 1999, Pages 115-122

  Touma, E ^a   Suormala, T ^b   Baumgartner, E R ^b   Gerbaka, B ^c   De Ogier Baulny, H ^d   Loiselet, J ^a  

^a SAINT JOSEPH UNIVERSITY   (Lebanon)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c Hôtel Dieu   (Lebanon)

^d HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BIOTIN; CARBOXYLIC ACID; HYDRACRYLIC ACID; THIAMINE;

ARTICLE; BREATHING; CASE REPORT; CHILD; CONSCIOUSNESS; DISORDERS OF CARBOHYDRATE METABOLISM; FEMALE; FIBROBLAST; FIBROBLAST CULTURE; HUMAN; METABOLIC ACIDOSIS; METABOLITE; ONSET AGE; URINARY EXCRETION;

AGE OF ONSET; CARBON-NITROGEN LIGASES; FEMALE; HUMANS; INFANT; MALE; METABOLISM, INBORN ERRORS;

EID: 0032924329     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005485500096     Document Type: Article

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