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
Clinical features, BTD gene mutations, and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern China.
Liu Z et al.
American Journal of Medical Genetics. Part A, 2018
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