相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Mutations causing biotinidase deficiency in children ascertained by newborn screening in Western Hungary
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Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies
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EUROPEAN JOURNAL OF PEDIATRICS (2003)
Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency
B Wolf et al.
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Mutations in BTD causing biotinidase deficiency
J Hymes et al.
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