Lanean...

Fructose-1,6-diphosphatase deficiency: a treatable neurometabolic disorder

Fructose-1,6-diphosphatase (FDPase) deficiency is usually considered an inborn error of fructose metabolism, however, strictly speaking it is a defect of gluconeogenesis. The disorder is manifested by the appearance of hypoglycaemia, ketosis and lactic acidosis (neonatally or later during fasting or...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Kamate, Mahesh, Jambagi, Milind, Gowda, Prashanth, Sonoli, Smita
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BMJ Publishing Group 2014
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4173192/
https://ncbi.nlm.nih.gov/pubmed/25246452
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2013-201553
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!