Associated Papers
Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient.
Geng J et al.
Molecular Genetics & Genomic Medicine, 2021
33452876 (PubMed )
Supplement: MGG3-9-e1591-s001.xlsx › Sheet1
Analysis of mutations causing biotinidase deficiency.
Pindolia K et al.
Human Mutation, 2010
Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency.
Ye J et al.
Journal of Inherited Metabolic Disease, 2009
[Diagnosis, treatment and gene mutation analysis in children with holocarboxylase synthetas deficiency].
Wang T et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2009
Hearing loss in biotinidase deficiency: genotype-phenotype correlation.
Sivri HS et al.
The Journal of Pediatrics, 2007
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