Results 31 to 40 of about 130,693 (343)

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

Treating neutropenia and neutrophil dysfunction in glycogen storage disease IB with an SGLT2-inhibitor.

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, J. V. Van Hove, T. Derks, N. Chevalier, Vijaya Knight, A. Koller, E. Oussoren, J. Mayr, F. V. van Spronsen, F. Lagler, Sommer Gaughan, E. Van Schaftingen, M. Veiga-da-Cunha   +12 more
semanticscholar   +1 more source

Fluorodeoxyglucose-positron emission tomography as a potential alternative tool for functional diagnosis of glycogen storage disease type I

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, Mikako Inokuchi, MD, PhD, Satsuki Nakano, MD, Yu Iwabuchi, MD, PhD, Tetsu Hayashida, MD, PhD, Tomohiro Ishii, MD, PhD, Tomonobu Hasegawa, MD, PhD   +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
openaire   +2 more sources

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, Sinziana Daia-Iliescu, Mircea Diculescu, Ruxandra Ionescu   +3 more
doaj   +1 more source

Assessment of auditory functions in patients with hepatic glycogen storage diseases

The Turkish Journal of Pediatrics, 2022
Background. Hepatic glycogen storage diseases are a group of diseases manifesting mainly with hypoglycemia and hepatomegaly. The patients require frequent daytime and nocturnal feedings.
Merve Emecen Şanlı, Fatih Ezgü, İlyas Okur, Aslı İnci, Ayşe Kılıç, Ekin Özsaydı, Bülent Gündüz, Hakan Tutar, Nuriye Yıldırım Gökay, Leyla Tümer   +9 more
doaj   +1 more source

Towards enhanced understanding of idiopathic ketotic hypoglycemia: a literature review and introduction of the patient organization, Ketotic Hypoglycemia International

Orphanet Journal of Rare Diseases, 2021
Background Idiopathic Ketotic hypoglycemia (IKH) is a diagnosis of exclusion. Although considered as the most frequent cause of hypoglycemia in childhood, little progress has been made to advance the understanding of IKH since the medical term was coined
Danielle Drachmann, Erica Hoffmann, Austin Carrigg, Beccie Davis-Yates, Valerie Weaver, Paul Thornton, David A. Weinstein, Jacob S. Petersen, Pratik Shah, Henrik Thybo Christesen   +9 more
doaj   +1 more source

Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib

Orphanet Journal of Rare Diseases, 2020
Background Glycogen storage disease type Ib (GSD Ib) is a rare inborn error of glycogen metabolism due to mutations in SLC37A4 . Besides a severe form of fasting intolerance, the disorder is usually associated with neutropenia and neutrophil dysfunction ...
S. Grünert, R. Elling, Bärbel Maag, S. Wortmann, T. Derks, L. Hannibal, A. Schumann, S. Rosenbaum-Fabian, U. Spiekerkoetter   +8 more
semanticscholar   +1 more source

Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX

Molecular Genetics and Metabolism, 2020
Introduction: Liver Glycogen Storage Disease Type IX (GSD IX) is one of the most common forms of GSD. It is caused by a deficiency in enzyme phosphorylase kinase (PhK), a complex, hetero-tetrameric enzyme comprised of four subunits - α, β, γ, and δ ...
Samuela A. Fernandes, G. E. Cooper, Rebecca A. Gibson, P. Kishnani   +3 more
semanticscholar   +1 more source

Hepatic Carbohydrate Response Element Binding Protein Activation Limits Nonalcoholic Fatty Liver Disease Development in a Mouse Model for Glycogen Storage Disease Type 1a

Hepatology, 2020
Glycogen storage disease (GSD) type 1a is an inborn error of metabolism caused by defective glucose‐6‐phosphatase catalytic subunit (G6PC) activity. Patients with GSD 1a exhibit severe hepatomegaly due to glycogen and triglyceride (TG) accumulation in ...
Y. Lei, J. Hoogerland, V. Bloks, T. Bos, A. Bleeker, H. Wolters, J. Wolters, Brenda S. Hijmans, T. V. van Dijk, Rachel Thomas, M. van Weeghel, G. Mithieux, R. Houtkooper, A. de Bruin, F. Rajas, F. Kuipers, M. Oosterveer   +16 more
semanticscholar   +1 more source