Results 91 to 100 of about 172,120 (351)
Human Molecular Genetics, 2018 Glucose‐6‐phosphatase &agr; (G6Pase) deficiency, also known as von Gierke's Disease or Glycogen storage disease type Ia (GSD Ia), is characterized by decreased ability of the liver to convert glucose‐6‐phosphate to glucose leading to glycogen ...
Lauren R. Waskowicz +13 more
semanticscholar +1 more source
Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT To describe clinical and laboratory characteristics, emphasizing the evolution of patients with hepatic glycogen storage diseases (GSDs) followed in Brazilian reference centers. Multicenter, retrospective study involving 13 centers, using RedCap platform. 132 patients were included: 63 (47.8%) GSD type I (56 Ia, 7 Ib), 13 (9.8%) with type III (
Mariana Pena Costa +23 more
wiley +1 more source
Biochemical investigations in glycogen storage disease
The Turkish Journal of Pediatrics, 1963 Two cases of glycogenosis are reported and the clinical and biochemical aspects of the disease are discussed.
P Ozand, M Onay, S Balci, S Amiri
doaj
Protective effects of Ziziphus Jujube on clinical and paraclinical findings of glycogen storage disease Ib, a case report and literature review [PDF]
Journal of Advanced Biomedical Sciences, 2017 Background & Objectives: Glycogen storage disease type Ib is a metabolic disease of carbohydrate metabolism. Patients suffer from metabolic disorders as a result of insufficient production of glucose from glycogen, and recurrent infections due to ...
shahsanam Geibi +2 more
doaj
Isolated glycogen storage disease of the heart
Российский кардиологический журнал, 2019 Isolated glycogen storage disease of the heart (PRKAG2 syndrome) is a form of glycogenosis, which is characterized by left ventricular hypertrophy, similar to the phenotype of hypertrophic cardiomyopathy, associated with pre-excitation of the ventricles ...
S. M. Komissarova +4 more
doaj +1 more source
GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease
Annals of Clinical and Translational Neurology, 2020 Objective Adult polyglucosan body disease (APBD) is an adult‐onset neurological variant of glycogen storage disease type IV. APBD is caused by recessive mutations in the glycogen branching enzyme gene, and the consequent accumulation of poorly branched ...
Erin E. Chown +14 more
doaj +1 more source
Hepatic mitochondrial dysfunction is a feature of Glycogen Storage Disease Type Ia (GSDIa)
Scientific Reports, 2017 Glycogen storage disease type Ia (GSDIa, von Gierke disease) is the most common glycogen storage disorder. It is caused by the deficiency of glucose-6-phosphatase, an enzyme which catalyses the final step of gluconeogenesis and glycogenolysis. Clinically,
B. L. Farah +9 more
semanticscholar +1 more source
Glycemia Regulation: From Feedback Loops to Organizational Closure. [PDF]
, 2020 Endocrinologists apply the idea of feedback loops to explain how hormones regulate certain bodily functions such as glucose metabolism. In particular, feedback loops focus on the maintenance of the plasma concentrations of glucose within a narrow range ...
Bich, Leonardo +2 more
core +5 more sources
History of glycogen storage disease type Ⅱ
Chinese Journal of Contemporary Neurology and Neurosurgery, 2018 Glycogen storage disease type Ⅱ (GSD Ⅱ), which is also called Pompe disease, is an autosomal recessive hereditary metabolic disease resulting from mutations of acid α-glucosidase (GAA).
Cheng ZHANG, Liang WANG
doaj +1 more source
Portal diversion in glycogen storage disease [PDF]
, 1969 Two children with glycogen storage disease were treated with portacaval transposition. The first is alive and in good health more than 5 years later. She underwent a rapid increase in growth after the operation, while the liver remained the same size ...
Blanchard, H +3 more
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