Results 21 to 30 of about 172,120 (351)

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

Lafora disease offers a unique window into neuronal glycogen metabolism [PDF]

, 2018
Lafora disease (LD) is a fatal, autosomal recessive, glycogen-storage disorder that manifests as severe epilepsy. LD results from mutations in the gene encoding either the glycogen phosphatase laforin or the E3 ubiquitin ligase malin. Individuals with LD
Gentry, Matthew S., Guinovart, Joan J., Minassian, Berge A., Roach, Peter J., Serratosa, Jose M.   +4 more
core   +2 more sources

Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage [PDF]

, 2020
Glycogenin is considered to be an essential primer for glycogen biosynthesis. Nevertheless, patients with glycogenin-1 deficiency due to biallelic GYG1 (NM_004130.3) mutations can store glycogen in muscle.
Dellgren, Göran, Glamuzina, Emma, Hedberg-Oldfors, Carola, Hernandez-Lain, Aurelio, Kornblum, Cornelia, Oldfors, Anders, Roach, Peter, Sandstedt, Joakim, Tasca, Giorgio, Thomsen, Christer, Visuttijai, Kittichate   +10 more
core   +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 - each
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

From exercise intolerance to functional improvement: The second wind phenomenon in the identification of McArdle disease [PDF]

, 2014
McArdle disease is the most common of the glycogen storage diseases. Onset of symptoms is usually in childhood with muscle pain and restricted exercise capacity.
Andrea Beggs, Andreu AL, Andrew Wakelin, Borg G, Braakhekke JP, Charlotte Ellerton, Gurgel-Giannetti J, Haller RG, Janice L Holton, Jatin Pattni, Lucia A, Lucia A, Miteff F, Nadaj-Pakleza AA, Pearson C, Pernow BB, Quinlivan R, Renata Siciliani Scalco, Richard Godfrey, Ros Quinlivan, Sherryl Chatfield, Stefen Brady, Vieitez I, Vissing J   +23 more
core   +3 more sources

The potential of dietary treatment in patients with glycogen storage disease type IV

Journal of Inherited Metabolic Disease, 2020
There is paucity of literature on dietary treatment in glycogen storage disease (GSD) type IV and formal guidelines are not available. Traditionally, liver transplantation was considered the only treatment option for GSD IV.
T. Derks, Fabian Peeks, F. de Boer, Marieke J. Fokkert-Wilts, H. P. van der Doef, Marius C. van den Heuvel, E. Szymańska, D. Rokicki, P. Ryan, D. Weinstein   +9 more
semanticscholar   +1 more source

Management of Children with Glycogen Storage Disease (Liver Involvement Forms). Best Practice Guidelines

Педиатрическая фармакология, 2020
Glycogen storage disease is the hereditary carbohydrate metabolism pathology which is caused by mutations in various genes encoding enzymes responsible for glycogenesis and glycogenolysis. Excessive glycogen deposition in various tissues cells (mostly in
Alexander A. Baranov, Leyla S. Namazova-Baranova, Andrey N. Surkov, Olga S. Gundobina, Elena A. Vishneva, Tea V. Margieva, Nato D. Vashakmadze, Liliya R. Selimzyanova   +7 more
doaj   +1 more source