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Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI.
Massese M, Tagliaferri F, Dionisi-Vici C, Maiorana A. Massese M, et al. Orphanet J Rare Dis. 2022 Jun 20;17(1):241. doi: 10.1186/s13023-022-02387-6. Orphanet J Rare Dis. 2022. PMID: 35725468 Free PMC article. Review.
BACKGROUND: Glycogen storage diseases (GSDs) with liver involvement are classified into types 0, I, III, IV, VI, IX and XI, depending on the affected enzyme. ...However, some patients can exhibit a more severe phenotype and an important progression of the liv …
BACKGROUND: Glycogen storage diseases (GSDs) with liver involvement are classified into types 0, I, III, IV, VI, IX and …
Glycogen storage diseases: new perspectives.
Ozen H. Ozen H. World J Gastroenterol. 2007 May 14;13(18):2541-53. doi: 10.3748/wjg.v13.i18.2541. World J Gastroenterol. 2007. PMID: 17552001 Free PMC article. Review.
Glycogen storage diseases (GSD) are inherited metabolic disorders of glycogen metabolism. ...Type II is a prototype of inborn lysosomal storage diseases and involves many organs but primarily the muscle. ...
Glycogen storage diseases (GSD) are inherited metabolic disorders of glycogen metabolism. ...Type II is a protot
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.
Koch RL, Soler-Alfonso C, Kiely BT, Asai A, Smith AL, Bali DS, Kang PB, Landstrom AP, Akman HO, Burrow TA, Orthmann-Murphy JL, Goldman DS, Pendyal S, El-Gharbawy AH, Austin SL, Case LE, Schiffmann R, Hirano M, Kishnani PS. Koch RL, et al. Mol Genet Metab. 2023 Mar;138(3):107525. doi: 10.1016/j.ymgme.2023.107525. Epub 2023 Jan 25. Mol Genet Metab. 2023. PMID: 36796138 Review.
Glycogen storage disease type IV (GSD IV) is an ultra-rare autosomal recessive disorder caused by pathogenic variants in GBE1 which results in reduced or deficient glycogen branching enzyme activity. ...The clinical continuum encom
Glycogen storage disease type IV (GSD IV) is an ultra-rare autosomal recessive disorder caused by
Liver transplantation for glycogen storage disease types I, III, and IV.
Matern D, Starzl TE, Arnaout W, Barnard J, Bynon JS, Dhawan A, Emond J, Haagsma EB, Hug G, Lachaux A, Smit GP, Chen YT. Matern D, et al. Eur J Pediatr. 1999 Dec;158 Suppl 2(Suppl 2):S43-8. doi: 10.1007/pl00014320. Eur J Pediatr. 1999. PMID: 10603098 Free PMC article. Review.
Glycogen storage disease (GSD) types I, III, and IV can be associated with severe liver disease. ...It remains to be evaluated, whether a genotype-phenotype correlation exists for GSD type IV, which may aid in the decision making.
Glycogen storage disease (GSD) types I, III, and IV can be associated with severe liver disease. ...It re
Update on polyglucosan storage diseases.
Cenacchi G, Papa V, Costa R, Pegoraro V, Marozzo R, Fanin M, Angelini C. Cenacchi G, et al. Virchows Arch. 2019 Dec;475(6):671-686. doi: 10.1007/s00428-019-02633-6. Epub 2019 Jul 30. Virchows Arch. 2019. PMID: 31363843 Review.
An abnormal structural form of glycogen (with less branching points or amylopectin-like polysaccharide) called polyglucosan (PG) may accumulate in various tissues such as striated and smooth muscles, brain, nerve, liver and skin, and cause a group of nine different genetic …
An abnormal structural form of glycogen (with less branching points or amylopectin-like polysaccharide) called polyglucosan (PG) may …
Gene therapy for glycogen storage diseases.
Kishnani PS, Sun B, Koeberl DD. Kishnani PS, et al. Hum Mol Genet. 2019 Oct 1;28(R1):R31-R41. doi: 10.1093/hmg/ddz133. Hum Mol Genet. 2019. PMID: 31227835 Free PMC article. Review.
The focus of this review is the development of gene therapy for glycogen storage diseases (GSDs). GSD results from the deficiency of specific enzymes involved in the storage and retrieval of glucose in the body. ...For example, glucose-6-phosphatase (G6Pase) …
The focus of this review is the development of gene therapy for glycogen storage diseases (GSDs). GSD results from the deficie …
The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies.
Moses SW, Parvari R. Moses SW, et al. Curr Mol Med. 2002 Mar;2(2):177-88. doi: 10.2174/1566524024605815. Curr Mol Med. 2002. PMID: 11949934 Review.
Glycogen storage disease type IV (GSD-IV), also known as Andersen disease or amylopectinosis (MIM 23250), is a rare autosomal recessive disorder caused by a deficiency of glycogen branching enzyme (GBE) leading to the accumu
Glycogen storage disease type IV (GSD-IV), also known as Andersen disease or amylopectinosi
Glycogen storage disease: clinical, biochemical, and molecular heterogeneity.
Shin YS. Shin YS. Semin Pediatr Neurol. 2006 Jun;13(2):115-20. doi: 10.1016/j.spen.2006.06.007. Semin Pediatr Neurol. 2006. PMID: 17027861 Review.
Glycogen storage diseases (GSDs) are characterized by abnormal inherited glycogen metabolism in the liver, muscle, and brain and divided into types 0 to X. ...GSD type IV, Andersen disease or amylopectinosis, is caused by deficiency of th
Glycogen storage diseases (GSDs) are characterized by abnormal inherited glycogen metabolism in the liver, muscle, and
Neonatal presentation of lethal neuromuscular glycogen storage disease type IV.
Escobar LF, Wagner S, Tucker M, Wareham J. Escobar LF, et al. J Perinatol. 2012 Oct;32(10):810-3. doi: 10.1038/jp.2011.178. J Perinatol. 2012. PMID: 23014386 Review.
Type IV, also known as Andersen disease, represents a rare subtype that can induce severe clinical findings early in life. ...His lack of expected course for hypoxic ischemic encephalopathy prompted genetic testing, including a muscle biopsy, which confirmed
Type IV, also known as Andersen disease, represents a rare subtype that can induce severe clinical findings early in li
Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.
Lefèvre CR, Collardeau-Frachon S, Streichenberger N, Berenguer-Martin S, Clémenson A, Massardier J, Prieur F, Laurichesse H, Laffargue F, Acquaviva-Bourdain C, Froissart R, Pettazzoni M. Lefèvre CR, et al. J Inherit Metab Dis. 2024 Mar;47(2):255-269. doi: 10.1002/jimd.12692. Epub 2023 Nov 27. J Inherit Metab Dis. 2024. PMID: 38012812 Review.
Glycogen storage disease type IV (GSD IV), also called Andersen disease, or amylopectinosis, is a highly heterogeneous autosomal recessive disorder caused by a glycogen branching enzyme (GBE, 1,4-alpha-glucan branching enzym
Glycogen storage disease type IV (GSD IV), also called Andersen disease, or amylopectinosis
47 results