Partial 3-methylcrotonyl-CoA carboxylase deficiency in an infant with fatal outcome due to progressive respiratory failure

European Journal of Pediatrics

Volumn 157, Issue 3, 1998, Pages 225-229

  Wiesmann, U N ^a   Suormala, T ^b   Pfenninger, J ^a   Baumgartner, E R ^b  

^a Universitats Kinderklinik   (Switzerland)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

Inborn error of leucine metabolism; Lethal outcome; Organic aciduria; Partial isolated MCC deficiency

Indexed keywords

METHYLCROTONOYL COENZYME A CARBOXYLASE;

ACIDURIA; ARTICLE; BRAIN ATROPHY; CASE REPORT; FAILURE TO THRIVE; FATALITY; HUMAN; INBORN ERROR OF METABOLISM; INFANT; MALE; MUSCLE HYPOTONIA; PRIORITY JOURNAL; RESPIRATORY FAILURE;

EID: 0031915463     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310050800     Document Type: Article

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