Biotinidase deficiency: A cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome

Pediatric Research

Volumn 26, Issue 3, 1989, Pages 260-266

  Baumgartner, E Regula ^a   Suormala, Terttu M ^a   Wick, Hugo ^a   Probst, Alphonse ^b   Blauenstein, Ursula ^c   Bachmann, Claude ^d   Vest, Markus ^c  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b UNIVERSITY OF BASEL   (Switzerland)

^c Children’s Hospital Bruderholz ^*  (Switzerland)

^d UNIVERSITY OF LAUSANNE   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

BIOTIN; BIOTINIDASE; CARBOXYLASE;

AUTOPSY; CASE REPORT; DIFFERENTIAL DIAGNOSIS; ENZYME DEFICIENCY; ENZYME ISOLATION; FATALITY; FEMALE; HISTOLOGY; HUMAN; INFANT; LEIGH DISEASE; LYMPHOCYTE; NEUROLOGIC DISEASE; PRIORITY JOURNAL; STRIDOR;

AMIDOHYDROLASES; BIOTIN; BRAIN DISEASES, METABOLIC; CARBOXY-LYASES; CASE REPORT; CEREBRAL CORTEX; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMAN; INFANT; KIDNEY; LEIGH DISEASE; LIVER; RESPIRATORY SOUNDS; SUPPORT, NON-U.S. GOV'T;

EID: 0024457140     PISSN: 00313998     EISSN: 15300447     Source Type: Journal    
DOI: 10.1203/00006450-198909000-00021     Document Type: Article

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