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      Phenotypic Variation in Biotinidase Deficiency

      research Phenotypic variation in biotinidase deficiency

      184 citations , August 1983 in “˜The œjournal of pediatrics/˜The œJournal of pediatrics”
      In this study, biotinidase deficiency in children usually presented with neurological or skin symptoms, while metabolic ketoacidosis and organic aciduria appeared later.

      research Transport of Biotin in Human Keratinocytes

      53 citations , March 2003 in “Journal of Investigative Dermatology”
      This study found that human keratinocytes express a sodium-dependent multivitamin transporter for biotin, pantothenic acid, and lipoic acid, including a highly specific biotin transport component.