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
Glycogen storage disease type VI: clinical course and molecular background
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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
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
Clinicopathological Features of Cardiac Glycolipid Storage Disease in an Adult Pug.
Sign Up to like & getrecommendations! Published in 2017 at "Journal of comparative pathology"
DOI: 10.1016/j.jcpa.2016.10.013
Abstract: A 12-year-old neutered male pug suffered cardiac arrest and died under general anaesthesia during diagnostic imaging for evaluation of exercise intolerance and respiratory crisis. Histopathological evaluation revealed two types of storage material, glycolipid and lipopigment,… read more here.
Keywords: features cardiac; storage disease; disease; glycolipid storage ... See more keywords
Cardiomyopathies in children: Mitochondrial and storage disease
Sign Up to like & getrecommendations! Published in 2018 at "Progress in Pediatric Cardiology"
DOI: 10.1016/j.ppedcard.2018.08.009
Abstract: Abstract Inborn errors of metabolism are individually rare but account for up to 10% of all childhood cardiomyopathies. This group of diseases is extremely heterogeneous in terms of age of onset, presentation and natural history.… read more here.
Keywords: cardiology; cardiomyopathies children; disease; children mitochondrial ... 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
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
Prolonged granulocyte colony stimulating factor use in glycogen storage disease type 1b associated with acute myeloid leukemia and with shortened telomere length
Sign Up to like & getrecommendations! Published in 2018 at "Pediatric Hematology and Oncology"
DOI: 10.1080/08880018.2018.1440675
Abstract: ABSTRACT Glycogen storage disease (GSD) type 1 is a rare autosomal recessive inherited condition. The 1b subtype comprises the minority of cases, with an estimated prevalence of 1 in 500,000 children. Patients with glycogen storage… read more here.
Keywords: glycogen storage; disease; csf; type ... See more keywords
Downregulation of pathways implicated in liver inflammation and tumorigenesis of glycogen storage disease type Ia mice receiving gene therapy
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DOI: 10.1093/hmg/ddx097
Abstract: &NA; Glycogen storage disease type Ia (GSD‐Ia) is characterized by impaired glucose homeostasis and long‐term risks of hepatocellular adenoma (HCA) and carcinoma (HCC). We have shown that the non‐tumor‐bearing (NT), recombinant adeno‐associated virus (rAAV) vector‐treated… read more here.
Keywords: aav mice; signaling pathways; glycogen storage; mice ... See more keywords
Late onset of neutral lipid storage disease due to a rare PNPLA2 mutation in a patient with myopathy and cardiomyopathy
Sign Up to like & getrecommendations! Published in 2022 at "Chinese Medical Journal"
DOI: 10.1097/cm9.0000000000002004
Abstract: To the Editor: Neutral lipid storage disease with myopathy (NLSDM) is a rare autosomal recessive disorder caused by mutations in the PNPLA2 gene. The gene encodes adipose triglyceride lipase (ATGL), an enzyme that catalyzes hydrolysis… read more here.
Keywords: lipid storage; pnpla2 mutation; storage disease; neutral lipid ... See more keywords