Results 11 to 20 of about 172,120 (351)
Ketotic hypoglycemia in patients with Down syndrome
JIMD Reports, 2021 Background Ketotic hypoglycemia (KH) without an identifiable underlying metabolic or hormonal disease is historically named idiopathic KH. The prevalence is unknown, but idiopathic KH is considered the most frequent cause of hypoglycemia beyond the ...
Danielle Drachmann +4 more
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Molecular Genetics and Metabolism Reports, 2021 Introduction A deficiency of glycogen debrancher enzyme in patients with glycogen storage disease type III (GSD III) manifests with hepatic, cardiac, and muscle involvement in the most common subtype (type a), or with only hepatic involvement in patients
Ghada Hijazi +12 more
semanticscholar +1 more source
Nature Reviews Disease Primers, 2023 Glycogen storage diseases (GSDs) are a group of rare, monogenic disorders that share a defect in the synthesis or breakdown of glycogen. This Primer describes the multi-organ clinical features of hepatic GSDs and muscle GSDs, in addition to their epidemiology, biochemistry and mechanisms of disease, diagnosis, management, quality of life and future ...
William B. Hannah +5 more
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The Phenotypic and Genetic Spectrum of Glycogen Storage Disease Type VI
Genes, 2021 Glycogen storage disease type VI (GSD VI) is an autosomal recessive disorder of glycogen metabolism due to mutations in the glycogen phosphorylase gene (PYGL), resulting in a deficiency of hepatic glycogen phosphorylase.
S. Grünert +2 more
semanticscholar +1 more source
Liver Transplantation for Glycogen Storage Disease Type IV
Frontiers in Pediatrics, 2021 Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by glycogen–branching enzyme (GBE) deficiency, leading to accumulation of amylopectin–like glycogen that may damage affected tissues.
Min Liu, Liying Sun
semanticscholar +1 more source
A RARE CAUSE OF BOTH HYPO AND HYPERGLYCEMIA; GLYCOGEN STORAGE DISEASE TYPE 0: A CASE REPORT
İstanbul Tıp Fakültesi Dergisi, 2021 Glycogen-storage disease type 0A is a rare autosomal recessively inherited disease resulting from a hepatic glycogen synthase enzyme deficiency.
Meryem Karaca, Halil Aslan
doaj +1 more source
Blood, 2020 Neutropenia and neutrophil dysfunction cause serious infections and inflammatory bowel disease in glycogen storage disease Ib (GSD-Ib). Our discovery that accumulating 1,5-anhydroglucitol-6-phosphate causes neutropenia in a G6PC3-deficient mouse model ...
S. Wortmann +12 more
semanticscholar +1 more source
Radiology Case Reports, 2023 A 43-year-old woman with genetically confirmed glycogen storage disease type Ib was suspected to have left breast cancer. Fluorodeoxyglucose-positron emission tomography showed high fluorodeoxyglucose accumulation in the whole liver as well as left ...
Takeshi Sato, MD +6 more
doaj +1 more source
Glycogen storage diseases: An update
World Journal of Gastroenterology, 2023 Glycogen storage diseases (GSDs), also referred to as glycogenoses, are inherited metabolic disorders of glycogen metabolism caused by deficiency of enzymes or transporters involved in the synthesis or degradation of glycogen leading to aberrant storage and/or utilization. The overall estimated GSD incidence is 1 case per 20000-43000 live births. There
Gümüş, Ersin, Özen, Hasan
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METABOLIC VS INFLAMMATORY MYOPATHY: DIAGNOSTIC DIFFICULTIES AND ERRORS IN MYOPATHIES – CASE REPORT [PDF]
Romanian Journal of Rheumatology, 2019 Glycogen storage diseases are genetic metabolic disorders of glycogen metabolism. There are more than 12 types and they are grouped based on the enzyme deficiency and the affected tissue.
Andra-Patricia Stanciu +3 more
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