Biotinidase deficiency: Result of treatment with biotin from age 12 years

European Journal of Paediatric Neurology

Volumn 1, Issue 5-6, 1997, Pages 173-176

  Casado De Frias E ^a,c   Campos Castello J ^a   Maldonado, J Careaga ^a   Cerdá, C Pérez ^b  

^a UNIVERSIDAD COMPLUTENSE DE MADRID   (Spain)

^b UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^c HOSPITAL CLÍNICO SAN CARLOS   (Spain)

Author keywords

Biotin; Biotinidase deficiency

Indexed keywords

AMIDASE; BIOTIN; BIOTINIDASE;

ARTICLE; BRAIN; CASE REPORT; CHILD; DISORDERS OF CARBOHYDRATE METABOLISM; GENETICS; HUMAN; MALE; NEUROMUSCULAR DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; SPINAL CORD; TREATMENT OUTCOME;

AMIDOHYDROLASES; BIOTIN; BIOTINIDASE; BRAIN; CHILD; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MULTIPLE CARBOXYLASE DEFICIENCY; NEUROMUSCULAR DISEASES; SPINAL CORD; TREATMENT OUTCOME;

EID: 0031290552     PISSN: 10903798     EISSN: None     Source Type: Journal    
DOI: 10.1016/s1090-3798(97)80054-2     Document Type: Article

References (5)

1. Baumgartner ER, Suormala TM, Wick H et al. Biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome. Pediatr Res 1989; 26: 260-6.
2. Wolf B. Worldwide survey of neonatal screening for biotinidase-deficiency. J Inher Metab Dis 1991; 14: 923-7.
3. Heard GS, Wolf B, Jefferson LG et al. Neonatal screening for biotinidase deficiency: results of a oneyear pilot study. J Pediatr 1986; 108: 40-6.
4. Salbert BN, Pellock JM, Wolf B. Characterization of seizures associated with biotinidase deficiency. Neurology 1993; 43: 1351-4.
5. Heron B, Gautier O, Dulac O, Ponsot G. Déficit en biotinidase. Arch Fr Pédiatr 1993; 50: 875-8.