Abstract
European Journal of Human Genetics (2012) 20, doi:10.1038/ejhg.2012.28; published online 29 February 20121. DISEASE CHARACTERISTICS1.1 Name of the disease (synonyms)Biotinidase deficiency (late-onset multiple carboxylase deficiency;late-onset biotin-responsive multiple carboxylase deficiency;juvenile-onset multiple carboxylase deficiency; BTD deficiency).1.2 OMIM# of the disease253260.1.3 Name of the analysed genes or DNA/chromosome segmentsBTD.
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