biotinidase deficiency : KMLE 의학 검색 엔진 - 의학사전, 의학용어, 의학약어, 의학논문, 약품/의약품 검색

MeSH(Medical Subject Headings) 맞춤 검색 (http://www.nlm.nih.gov) 결과 : 1 페이지: 1

Biotinidase Deficiency - 새창 The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN.
Synonyms : Deficiency, Biotinidase, Deficiency, Multiple Carboxylase, Late-Onset, Biotinidase Deficiencies, Deficiencies, Biotinidase, Multiple Carboxylase Deficiency, Late Onset