Results 81 to 90 of about 20,098 (149)

Infant masking of recurrent hypoglycaemia and metabolic disease. [PDF]

BMJ Case Rep
Zhong B, Armarego M, Dignam N, Gard J.
europepmc   +1 more source

Exercise testing in late-onset glycogen storage disease type II patients undergoing enzyme replacement therapy.

Neuromuscul Disord, 2012
Marzorati M, Porcelli S, Bellistri G, Morandi L, Grassi B.   +4 more
europepmc   +1 more source

The kidney in genetic metabolic disorders. [PDF]

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

Complement Activation in Maternal and Placental Pathology of Preeclampsia. [PDF]

Hypertension
Banadakoppa MT, Chauhan MS, Tacam MJ, Nevins AW, Ruano AH, Ruano SH, Fuson JA, Yallampalli C.   +7 more
europepmc   +1 more source

Clinical and genetic analyses of 17 Chinese patients with glycogen storage disease type IXc. [PDF]

Orphanet J Rare Dis
Sun C, Du T, Xia Y, Jiang L, Sun M, Liang L, Zhang K, Yang Y, Sun Y, Wang R, Sun Y, Xiao B, Qiu W.   +12 more
europepmc   +1 more source

GMPPB-CDG Results in Lysosomal Dysfunction and Acid Alpha-Glucosidase Deficiency. [PDF]

J Inherit Metab Dis
Damiano C, Tarallo A, Gragnaniello V, Strollo S, Fecarotta S, Tuzzi MR, Polishchuk E, Montefusco S, Valanzano A, Assunto A, Minopoli N, Casa RD, Polishchuk R, Groen SLMI', Medina DL, Bertini E, Carrozzo R, Emmerich J, Schoser B, Pijnappel WWMP, Parenti G.   +20 more
europepmc   +1 more source

Quantification of muscle glycogen distribution in Pompe disease using 7 Tesla ¹³C NMR spectroscopy. [PDF]

J Neurol Neurosurg Psychiatry
Beha GH, Stemmerik MG, Boer VO, van der Ploeg AT, van der Beek NA, Andersen H, Marsman A, Jacobsen LN, Theunissen MTM, Petersen ET, Vissing J.   +10 more
europepmc   +1 more source

Untargeted Proteomics Profiling of Liver and Plasma in Fed and Fasted Liver-Specific Glycogen Storage Disease Type Ia (GSD Ia) Mice: Toward Potential Protein Biomarkers. [PDF]

J Inherit Metab Dis
Xiao R, de Vries HI, Gross-Valle C, Bleeker A, Derks TGJ, Bakker BM, Oosterveer MH, Wolters JC.   +7 more
europepmc   +1 more source

Prospective gait analysis in patients from the French registry of glycogen storage disease type III: implications for clinical trials. [PDF]

J Neurol
Hogrel JY, Fer F, Ledoux I, Petit F, Darce-Bello M, Labrune P, Wahbi K, Habes D, Gardin A, Masingue M, Laforêt P, Decostre V.   +11 more
europepmc   +1 more source