Multiple carboxylase deficiency (late onset) due to deficiency of biotinidase

• Asıl Yazarlar: Debadatta Mukhopadhyay (Yazar), Manoj Kumar Das (Yazar), Sandipan Dhar (Yazar), Maya Mukhopadhyay (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Wolters Kluwer Medknow Publications, 2014-01-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

Biotinidase is a ubiquitous mammalian cell enzyme occurring in liver, serum and kidney. It cleaves biotin from biocytin, which is a cofactor for biotin dependent enzymes, namely the human carboxylases. Biotinidase deficiency is associated with a wide spectrum of neurological, dermatological, immunol...