Results 71 to 80 of about 80,863 (210)
Huge aneurysm of the ascending aorta in a patient with adult-type Pompe's disease: histological findings mimicking fibrillinopathy [PDF]
, 2017 Adult-type Pompe's disease (glycogen storage disease type II) has rarely been shown to present with dilatative arteriopathy, suggesting potential smooth muscle involvement in addition to lysosomal glycogen deposits usually restricted to skeletal muscle ...
Banz, Yara +3 more
core
BiomoleculesGlycogen storage disease type III (GSDIII) is a hereditary glycogenosis caused by deficiency of the glycogen debranching enzyme (GDE), an enzyme, encoded by Agl, enabling glycogen degradation by catalyzing alpha-1,4-oligosaccharide side chain transfer ...
Kumudesh Mishra +11 more
doaj +1 more source
Hepatocyte Transplantation for Glycogen Storage Disease Type Ib
Cell Transplantation, 2007 Glycogen storage disease type I (GSD-I) is a group of autosomal recessive disorders with an incidence of 1 in 100,000. The two major subtypes are GSD-Ia, caused by a deficiency of glucose-6-phosphatase (G6Pase), and GSD-Ib, caused by a deficiency of ...
Kwang-Woong Lee +15 more
doaj +1 more source
Nature CommunicationsGlycogen storage disease type-Ia patients, deficient in the G6PC1 gene encoding glucose-6-phosphatase-α, lack blood glucose control, resulting in life-threatening hypoglycemia. Here we show our humanized mouse model, huR83C, carrying the pathogenic G6PC1-
Irina Arnaoutova +27 more
doaj +1 more source
Revista Paulista de PediatriaObjective: To discuss aspects of pre and post-operative otorhinolaryngology surgery in patients with glycogen storage disease type 1b. Case description: Description of three clinical cases with probable glycogen storage disease type 1b who underwent ...
Adriana Maria Alves de Tommaso +4 more
doaj +1 more source
Next‐generation glycogen storage diseases [PDF]
Journal of Inherited Metabolic Disease, 2018 Derks, Terry G. J. +2 more
openaire +3 more sources
The Musculoskeletal System in Pompe Disease: Pathology, consequences and treatment options [PDF]
, 2014 __Abstract__ Pompe disease, also known as glycogen storage disorder type II and acid maltase deficiency, is a rare metabolic myopathy. It is caused by a deficiency of lysosomal acid α-glucosidase which results in the accumulation of glycogen in ...
Berg, L.E.M. (Linda) van den
core
The influence of portal blood upon lipid metabolism in normal and diabetic dogs and baboons [PDF]
, 1975 It has been reported that hyperlipidemia can be alleviated in human beings with an end to side portacaval shunt. Understanding the mechanism of the effect has important implications, including the possibility of devising other ways of lowering serum ...
Lee, IY +3 more
core
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 +8 more
doaj
ETIOLOGY AND CLINICAL PROFILE OF PEDIATRIC CHRONIC LIVER DISEASE
Pakistan Armed Forces Medical Journal, 2020 Objective: To determine the etiology and clinical profile of chronic liver disease in children presenting at Pak Emirates Military Hospital Rawalpindi. Study Design: Cross-sectional study.
Munir Akmal Lodhi +4 more
doaj