Associated Papers
Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy.
Maguolo A et al.
Frontiers in Pediatrics, 2021
Spinal cord demyelination in children: A diagnostic challenge in neuropaediatrics for a good outcome.
Battini R et al.
Brain & Development, 2020
Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene.
Li H et al.
Molecular Genetics and Metabolism, 2014
Mutations causing biotinidase deficiency in children ascertained by newborn screening in Western Hungary.
Milánkovics I et al.
Molecular Genetics and Metabolism, 2007
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