Biochemical characterization of biotin-responsive multiple carboxylase deficiency: heterogeneity within the bio genetic complementation group.

Three biotin-dependent enzymes, pyruvate carboxylase (PC), propionyl CoA carboxylase (PCC), and beta-methylcrotonyl CoA carboxylase (beta MCC), were biochemically characterized in fibroblasts from two patients with neonatal multiple carboxylase deficiency. Genetic complementation analyses indicated...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Feldman, G L, Hsia, Y E, Wolf, B
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1981
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1685129/
https://ncbi.nlm.nih.gov/pubmed/6794361
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak