Diagnosis and follow‐up of glycogen storage disease (GSD) type VI from the largest GSD center in China
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24345
Abstract: Glycogen storage disease (GSD) Type VI is a glycogenolysis disorder caused by variants of PYGL. Knowledge about this disease is limited because only approximately 50 cases have been reported. We investigated the clinical profiles, molecular… read more here.
Keywords: disease gsd; glycogen storage; disease; gsd type ... See more keywords
Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from Iran
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2099
Abstract: Congenital disorder of glycosylation (CDG) and Glycogen storage diseases (GSDs) are inborn metabolic disorders caused by defects in some metabolic pathways. These disorders are a heterogeneous group of diseases caused by impaired O‐ as well… read more here.
Keywords: glycogen storage; exome sequencing; storage diseases; whole exome ... See more keywords
Glycogen storage disease type VI: clinical course and molecular background
Sign Up to like & getrecommendations! Published in 2019 at "European Journal of Pediatrics"
DOI: 10.1007/s00431-019-03499-1
Abstract: Glycogen storage disease type VI (GSD-VI; also known as Hers disease, liver phosphorylase deficiency) is caused by mutations in the gene coding for glycogen phosphorylase ( PYGL ) leading to a defect in the degradation… read more here.
Keywords: glycogen storage; storage disease; disease type; disease ... See more keywords
Next-generation glycogen storage diseases
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Inherited Metabolic Disease"
DOI: 10.1007/s10545-018-00250-0
Abstract: The glycogen storage diseases (GSD) are amongst the earliest recognized inborn errors of metabolism. After the Fulda Workshop on Glycogen Storage Disease (GSD) type I in 1990, international GSD conferences have been held in Fulda… read more here.
Keywords: gsd; glycogen storage; glycogen; gene therapy ... See more keywords
Polycystic kidney features of the renal pathology in glycogen storage disease type I: possible evolution to renal neoplasia
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Inherited Metabolic Disease"
DOI: 10.1007/s10545-018-0207-y
Abstract: Glycogen storage disease type I (GSDI) is a rare genetic pathology characterized by glucose-6 phosphatase (G6Pase) deficiency, translating in hypoglycemia during short fasts. Besides metabolic perturbations, GSDI patients develop long-term complications, especially chronic kidney disease… read more here.
Keywords: polycystic kidney; glycogen storage; disease; pathology ... See more keywords
Clinical and genetic characteristics of 17 Chinese patients with glycogen storage disease type IXa.
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DOI: 10.1016/j.gene.2017.06.026
Abstract: Glycogen storage disease (GSD) type IXa is caused by PHKA2 mutation, which accounts for about 75% of all the GSD type IX cases. Here we first summarized the clinical data and analyzed the PHKA2 gene… read more here.
Keywords: type; type ixa; glycogen storage; storage disease ... See more keywords
Links between autophagy and disorders of glycogen metabolism - Perspectives on pathogenesis and possible treatments.
Sign Up to like & getrecommendations! Published in 2019 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2019.11.005
Abstract: The glycogen storage diseases are a group of inherited metabolic disorders that are characterized by specific enzymatic defects involving the synthesis or degradation of glycogen. Each disorder presents with a set of symptoms that are… read more here.
Keywords: glycogen storage; links autophagy; metabolism; glycogen ... See more keywords
A new variant in PHKA2 is associated with glycogen storage disease type IXa
Sign Up to like & getrecommendations! Published in 2017 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2017.01.003
Abstract: Glucogenosis type IX is caused by pathogenic variants of the PHKA2 gene. Herein, we report a patient with clinical symptoms compatible with Glycogen Storage Disease type IXa. PYGL, PHKA1, PHKA2, PHKB and PHKG2 genes were… read more here.
Keywords: type ixa; glycogen storage; phka2; type ... See more keywords
Analysis of GBE1 mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review
Sign Up to like & getrecommendations! Published in 2018 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2018.09.001
Abstract: Background Glycogen storage disease type IV (GSD IV), caused by GBE1 mutations, has a quite wide phenotypic variation. While the classic hepatic form and the perinatal/neonatal neuromuscular forms result in early mortality, milder manifestations include… read more here.
Keywords: glycogen storage; analysis; disease; form ... See more keywords
Use of waxy maize heat modified starch in the treatment of children between 2 and 5 years with glycogen storage disease type I: A retrospective study
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2019.100536
Abstract: Background Glycogen storage disease type I (GSDI) is caused by deficiency of the enzyme glucose-6-phosphatase or glucose-6-phosphate transporter. Mainstay of treatment is provision of uncooked cornstarch (and/or continuous nocturnal pump feed (CNPF) to maintain normoglycemia).… read more here.
Keywords: glycogen storage; treatment; wmhms; waxy maize ... See more keywords
mRNA therapy restores euglycemia and prevents liver tumors in murine model of glycogen storage disease
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DOI: 10.1038/s41467-021-23318-2
Abstract: Glycogen Storage Disease 1a (GSD1a) is a rare, inherited metabolic disorder caused by deficiency of glucose 6-phosphatase (G6Pase-α). G6Pase-α is critical for maintaining interprandial euglycemia. GSD1a patients exhibit life-threatening hypoglycemia and long-term liver complications including… read more here.
Keywords: therapy; murine model; glycogen storage; storage disease ... See more keywords