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Deficiency of the biotinidase (BTD) enzyme is an inborn error of biotin metabolism caused by biallelic pathogenic variants in the BTD gene. There are two forms, partial and profound BTD deficiency, which both can be successfully treated with pharmaco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec735dd4d44dfdfcbdf8ec4d6155405c
