Results 171 to 180 of about 13,856,572 (229)

Neonatal gene therapy with AAV2/8-LSPhGAA improves hypertrophic cardiomyopathy in the Gaa^c.1826dupA knock-in murine model. [PDF]

Mol Genet Metab
Kan SH, Harb JF, Li S, Kliman A, Andrade-Heckman P, Christensen CL, Han SO, Koeberl DD, Wang RY.   +8 more
europepmc   +1 more source

Mapping glycogen accumulation and treatment effect in Pompe disease with saturation transfer MRI. [PDF]

Transl Res
Zeng Q, Li Y, Timm D, Johnson T, Mehta N, Martin L, Fox B, van Zijl PCM, Walter GA, Rosenberg JT, Kooi CWV, Corti M, Gentry MS, Sun RC, Byrne BJ, Yadav NN.   +15 more
europepmc   +1 more source

The kidney in genetic metabolic disorders. [PDF]

Med Genet
Schultheiss UT, Schumann A.
europepmc   +1 more source

Aberrant hepatic glycogenolysis and elevated insulin clearance can lead to major glucose irregularities in type 2 diabetes: insights from system identification. [PDF]

Front Physiol
Wang C, Kanaley JA, Chen J, Tan J.
europepmc   +1 more source

Distribution and functional significance of rodent cerebellar glycogen. [PDF]

iScience
Akther S, Lee AB, Konno A, Asiminas A, Vittani M, Mishima T, Hirai H, Meehan CF, Duran J, Guinovart J, Ashida H, Morita T, Baba O, Shigemoto R, Nedergaard M, Hirase H.   +15 more
europepmc   +1 more source

Highly potent MyoAAV4A vector reverses GSD III pathology in aged mice and enables long-term muscle disease correction in young adult mice. [PDF]

Mol Ther Adv
Liao KA, Yi H, Zhang H, Eisner W, Young SP, Sun B.   +5 more
europepmc   +1 more source

Editorial: Inborn errors of carbohydrate metabolism volume II. [PDF]

Front Genet
García-Ortíz JE, Doederlein-Schwartz IV, Abreu-González M, Martínez-Duncker I.   +3 more
europepmc   +1 more source

Proinsulinoma Unmasked by Intermittent Fasting: A Case of Endogenous Proinsulinaemic Hypoglycaemia. [PDF]

Case Rep Endocrinol
O'Brolchain A, Soosaipillai G, Pillai S, Amer S.   +3 more
europepmc   +1 more source

Perioperative management of pediatric patients with inborn errors of metabolism during liver transplantation. [PDF]

World J Transplant
Paulin S, Rajakumar A, Menon J, Shanmugam N, Rela M.   +4 more
europepmc   +1 more source