ATP Depletion, a Possible Role in the Pathogenesis of Hyperuricemia in Glycogen Storage Disease Type I [PDF]
Harry L. Greene+7 more
openalex +1 more source
Presumed Neuroglycopenia Caused by Severe Hypoglycemia in Horses. [PDF]
BackgroundNeuroglycopenia refers to a shortage of glucose in the brain resulting in neuronal dysfunction and death if left untreated. Presumed neuroglycopenia has not been described in horses.ObjectiveTo report neurological signs in horses with presumed ...
Aleman, M+3 more
core +1 more source
ABSTRACT Aim To investigate fasting metabolism in children with very long‐chain acyl‐CoA dehydrogenase deficiency (VLCADD) and medium‐chain acyl‐CoA dehydrogenase deficiency (MCADD) using microdialysis technique. Methods Twelve patients (7 with VLCADD, 5 with MCADD, mean age 4.9 years, 10/12 diagnosed via newborn screening) were recruited for ...
David Olsson+4 more
wiley +1 more source
PSEUDOTUMOR HEPATIS IN TYPE I GLYCOGEN STORAGE DISEASE (VON GIERKE'S) [PDF]
R. Rodney Howell+3 more
openalex +1 more source
Identification of p.His119Leu mutation in the<i> G6PC</i> gene of a Vietnamese patient with glycogen storage disease type Ia [PDF]
Nguyễn Huy Hoàng+4 more
openalex +1 more source
Neurological Involvement in Glycogen Storage Disease Type IXa due to PHKA2 Mutation [PDF]
Chelsea E. Smith+3 more
openalex +1 more source
Recombinant human acid α-glucosidase enzyme therapy for infantile glycogen storage disease type II: Results of a phase I/II clinical trial [PDF]
Andrea Amalfitano+17 more
openalex +1 more source
Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type I [PDF]
Tamara Mathis+5 more
openalex +1 more source
Ketotic Hypoglycaemia Following Sleeve Gastrectomy
ABSTRACT Post‐bariatric surgery hypoglycaemia is typically mediated by hyperinsulinaemia, although the exact mechanisms are incompletely understood. Two cases of non‐insulin mediated, ketotic hypoglycaemia following sleeve gastrectomy are presented. After fasting for 40 and 65 h, respectively, both patients developed symptomatic hypoglycaemia, with ...
Jinwen He+3 more
wiley +1 more source