Children with profound biotinidase deficiency should be treated with biotin regardless of their residual enzyme activity or genotype [2]

European Journal of Pediatrics

Volumn 161, Issue 3, 2002, Pages 167-168

  Wolf, Barry ^a  

^a Farmington   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BIOTIN; BIOTINIDASE; ENZYME;

ENZYME ACTIVITY; ENZYME ASSAY; ENZYME BLOOD LEVEL; ENZYME DEFICIENCY; GENE DELETION; GENOTYPE; HUMAN; LETTER; NONSENSE MUTATION; PRIORITY JOURNAL; SYMPTOM;

AMIDOHYDROLASES; AUSTRIA; BIOTIN; BIOTINIDASE; GENOTYPE; HUMANS; INFANT, NEWBORN; MASS SCREENING; MULTIPLE CARBOXYLASE DEFICIENCY;

EID: 0036175776     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-001-0902-8     Document Type: Letter

References (4)

1. Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria
2. Phenotypic variation in biotinidase deficiency
3. Profound biotinidase deficiency in two asymptomatic adults
4. Delayed-onset profound biotinidase deficiency