Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: Long-term outcome in a case with neonatal onset

European Journal of Pediatrics

Volumn 155, Issue 7, 1996, Pages 568-572

  Lehnert, W ^a   Niederhoff, H ^a   Suormala, T ^b   Baumgartner, E R ^b  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

Biotin; Inborn errors of metabolism; Isolated 3 methylcrotonyl CoA carboxylase deficiency

Indexed keywords

AMINO ACID MIXTURE; BIOTIN; CARNITINE; CLONAZEPAM; CORTICOTROPIN; GLYCINE; GLYCINE DERIVATIVE; HYDROXYACID; ISOVALERIC ACID; METHYLCROTONOYL COENZYME A CARBOXYLASE; PHENOBARBITAL;

ARTICLE; CARNITINE DEFICIENCY; CASE REPORT; CHILD; CLINICAL FEATURE; CONVULSION; DIET SUPPLEMENTATION; DISEASE COURSE; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME DEFICIENCY; HUMAN; HUMAN CELL; HYPSARRHYTHMIA; INFANTILE SPASM; MALE; MEDICAL RECORD; ONSET AGE; PRIORITY JOURNAL; PROTEIN RESTRICTION; URINALYSIS;

AGE OF ONSET; BIOTIN; CARBON-CARBON LIGASES; DEVELOPMENTAL DISABILITIES; DIET, PROTEIN-RESTRICTED; EPILEPSY, GENERALIZED; HUMANS; INFANT, NEWBORN; LIGASES; MALE; METABOLISM, INBORN ERRORS; PATIENT COMPLIANCE; VALERATES;

EID: 0029679811     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310050443     Document Type: Article

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