Results 81 to 90 of about 6,242,042 (194)

Next‐generation glycogen storage diseases [PDF]

Journal of Inherited Metabolic Disease, 2018
Derks, Terry G. J., Oosterveer, Maaike H., De Souza, Carolina F.   +2 more
openaire   +3 more sources

Clinical study of respiratory function in patients with late-onset glycogen storage disease typeⅡ

Chinese Journal of Contemporary Neurology and Neurosurgery, 2014
Background Late-onset glycogen storage disease typeⅡ(GSDⅡ, Pompe disease) is an autosomal recessive disease exhibiting progressive proximal skeletal muscle weakness and respiratory muscle involvement, caused by deficiency of the lysosomal enzyme acid ...
Wei-na JIN, Cheng-li QUE, Hai-yan TANG, Yu HUANG, Zhao-xia WANG, Xiao LIU, He LÜ, Wei ZHANG, Yun YUAN   +8 more
doaj  

New insights in pediatric metabolic medicine: pathogenesis of cholesterol biosynthesis defects and innovative therapies for Pompe disease [PDF]

, 2007
Rossi, Emiliano
core   +1 more source

Nursing care about child with glycogen storage disease I. type

, 2018
Present Situation: Research investigation deals with nursing care of the child with glycogen storage disease type I., as well as its diagnosis, nutritional management and complications.
ŠŤASTNÍKOVÁ, Hana
core  

Glycogen storage disease type XIV in the Middle East and North Africa region: A case report. [PDF]

World J Clin Pediatr
Al Dojan KA, Sulaiman SA, Alaarag A.
europepmc   +1 more source

Correction to: short and long-term acceptability and efficacy of extended-release cornstarch in the hepatic glycogen storage diseases: results from the Glyde study

Orphanet Journal of Rare Diseases
DA Weinstein, RJ Jackson, EA Brennan, M Williams, JE Davison, F de Boer, TGJ Derks, C Ellerton, B Faragher, J Gribben, P Labrune, KM McKittrick, E Murphy, KM Ross, U Steuerwald, C Voillot, AJM Woodward, HR Mundy   +17 more
doaj   +1 more source

Simultaneous Liver-Kidney Transplantation from a Deceased Donor for Glycogen Storage Disease Type Ia: A Case Report. [PDF]

Surg Case Rep
Hirata Y, Sanada Y, Takadera K, Akimoto R, Omameuda T, Horiuchi T, Okada N, Wakiya T, Onishi Y, Sakuma Y, Yamaguchi H.   +10 more
europepmc   +1 more source

Generation of a glycogen storage disease mouse model with fatty liver and its treatment by PPAR-α agonist bezafibrate. [PDF]

Front Pharmacol
Xie Y, Fu G, Fan C, Huang H, Yan J, Jin L.   +5 more
europepmc   +1 more source

Hepatic Glycogen Storage Disease Type IX: Long-Term Outcomes in the UK From 89 Patients. [PDF]

J Inherit Metab Dis
Halligan RK, Sanders MT, Selvanathan A, Veeraghavan N, Bernhardt I, Gribben J, Ramachandran R, White FJ, Schwahn BC, Stepien KM, Rehsi P, Murphy E, Hulley SL, Mundy HR.   +13 more
europepmc   +1 more source

Successful heart transplantation in a patient with glycogen storage disease. [PDF]

Oxf Med Case Reports
Yousefi-Koma H, Sharif-Kashani B, Ahmadi ZH, Sadeghi MT, Jahangirifard A, Saliminejad L, Shafaghi S, Naghashzadeh F.   +7 more
europepmc   +1 more source