ALLMedicine™ Glycogen Storage Disease Center
Research & Reviews 433 results
https://doi.org/10.1186/s13023-022-02345-2 10.2174/1566524024605798 10.1038/gim.2014.128 10.1007/BF02680007 10.1067/mpd.2000.105232 10.1002/jmd2.12200 10.1007/s00431-002-1004-y 10.1023/A:1005544117285 10.1186/1750-1172-9-47 10.1186/s13023-021-02006-w 10.1002/jimd.12178 10.1073/pnas.1816143116 10.1182/blood.2019004465 10.1186/s13052-021-01100-w 10.1186/s13023-020-01503-8 10.1111/ped.14629 10.1016/0022-1759(94)00247-T 10.1016/j.clim.2008.11.003 10.1002/ibd.20867 10.1080/08880018.2018.1440675 10.1016/j.clinbiochem.2013.06.003 10.1016/S0140-6736(96)90672-8 10.1111/j.1399-5448.2007.00228.x 10.1016/j.cca.2015.11.010 10.3389/fped.2020.00591
Orphanet Journal of Rare Diseases; Halligan RK, Dalton RN et. al.
May 14th, 2022 - Glycogen storage disease type Ib (GSD Ib) is a severe disorder of carbohydrate metabolism due to bi-allelic variants in SLC37A4. It is associated with neutropaenia and neutrophil dysfunction, which has recently been attributed to the accumulation ...
https://doi.org/10.1016/j.ejmg.2022.104518
European Journal of Medical Genetics; Steg Saban O, Pode-Shakked B et. al.
May 14th, 2022 - Avoidance of fasting and regular ingestion of uncooked-cornstarch have long been the mainstay dietary treatment of Glycogen Storage Disease type Ia (GSD-Ia). However, GSD-Ia patients who despite optimal dietary treatment show poor glycemic control...
https://doi.org/10.1186/s12887-021-03055-7 10.1186/s12881-016-0295-1 10.1038/s41436-018-0364-2 10.1016/j.ymgme.2013.03.009 10.1515/jpem-2017-0170 10.1515/jpem-2019-0603 10.1007/s00431-013-2223-0 10.1016/j.ymgme.2014.09.005 10.1016/j.ymgme.2013.12.008 10.1002/mgg3.1444 10.1016/j.bbapap.2009.10.013 10.1016/j.ymgme.2011.05.010 10.1038/gim.2012.104 10.1016/j.ymgme.2021.05.008
BMC Pediatrics; Shao Y, Li T et. al.
May 14th, 2022 - Pathogenic mutations in the PHKG2 are associated with a very rare disease-glycogen storage disease IXc (GSD-IXc)-and are characterized by severe liver disease. Here, we report a patient with jaundice, hypoglycaemia, growth retardation, progressive...
https://doi.org/10.1016/j.gim.2022.04.001
Genetics in Medicine : Official Journal of the American C... Grünert SC, Derks TGJ et. al.
May 4th, 2022 - This paper aims to report collective information on safety and efficacy of empagliflozin drug repurposing in individuals with glycogen storage disease type Ib (GSD Ib). This is an international retrospective questionnaire study on the safety and e...
https://emedicine.medscape.com/article/119777-overview
May 2nd, 2022 - Practice Essentials A glycogen storage disease (GSD) is the result of an enzyme defect. These enzymes normally catalyze reactions that ultimately convert glycogen compounds to glucose. Enzyme deficiency results in glycogen accumulation in tissues....
Guidelines 2 results
https://doi.org/10.1038/gim.2014.128
Genetics in Medicine : Official Journal of the American C... Kishnani PS, Austin SL et. al.
Oct 31st, 2014 - Glycogen storage disease type I (GSD I) is a rare disease of variable clinical severity that primarily affects the liver and kidney. It is caused by deficient activity of the glucose 6-phosphatase enzyme (GSD Ia) or a deficiency in the microsomal ...
https://doi.org/10.1097/GIM.0b013e3181e655b6
Genetics in Medicine : Official Journal of the American C... Kishnani PS, Austin SL et. al.
Jul 16th, 2010 - Glycogen storage disease type III is a rare disease of variable clinical severity affecting primarily the liver, heart, and skeletal muscle. It is caused by deficient activity of glycogen debranching enzyme, which is a key enzyme in glycogen degra...
Clinicaltrials.gov 20 results
https://clinicaltrials.gov/ct2/show/NCT04990388
Apr 28th, 2022 - This study is a phase 1/2 first-in-human (FIH), 2-part study to evaluate the safety, tolerability, and pharmacokinetic (PK) of a single ascending dose (SAD; part 1) and repeat doses (RD; part 2) of UX053 in patients with GSD III. Single SAD and RD...
https://clinicaltrials.gov/ct2/show/NCT03970278
Apr 18th, 2022 - Only participants who received DTX401 in study 401GSDIA01 (NCT03517085) are eligible to participate in study 401GSDIA02. No investigational product will be administered during study 401GSDIA02.
https://clinicaltrials.gov/ct2/show/NCT03665636
Dec 15th, 2021 - Prior to first study appointment: A medical record review will be done prior to the appointment to confirm the diagnosis of GSD I. For interested subjects who are not already known to the investigators (i.e., patients of the Duke University Medica...
https://clinicaltrials.gov/ct2/show/NCT04986735
Aug 16th, 2021 - Glycogen Storage Disease Type 1b (GSD1b) is an ultra-rare inborn error of carbohydrate metabolism, characterized by low neutrophil count, neutrophil dysfunction, and the associated recurrent infections and inflammatory bowel conditions. The curren...
https://clinicaltrials.gov/ct2/show/NCT04930627
Jun 23rd, 2021 - Symptoms of glycogen storage disease type Ib (GSD Ib) include - among others - hypoglycemia, hepatomegaly and neutropenia with concomitant neutrophil dysfunction, which results in recurrent bacterial and fungal infections, and inflammatory bowel d...
News 3 results
https://reference.medscape.com/viewarticle/954078
Aug 6th, 2021 - Glycogen storage disease type II, also called Pompe disease, is a rare, progressive, genetic condition in which there is an accumulation of glycogen, a source of energy for the body, inside the lysosomes of cells. This occurs due to mutations in t...
https://www.mdedge.com/familymedicine/article/82543/lipid-disorders/video-glycogen-storage-disease-easy-miss-easy-fix
Clinical Endocrinology News; M. Alexander Otto
May 22nd, 2014 - VANCOUVER, B. C.
https://www.medscape.com/viewarticle/922023
Abstract and Introduction Introduction Hepatocellular adenoma (HA) is a relatively uncommon benign liver neoplasm that is typically seen in obese women of childbearing age who are on long-term oral contraceptives.[1] It is also reported to occur i...