Condition: Glycogen Storage Disease
rs12118058 in
AGL gene and
Glycogen Storage Disease
PMID 8990006 1997 A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa.
PMID 26984562 2016 Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations.
PMID 25602008 2015 A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series.
PMID 9412782 1998 A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients.
rs1801175 in
G6PC gene and
Glycogen Storage Disease
PMID 8211187 1993 Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.
PMID 15316959 2004 Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population.
rs1800312 in
GAA gene and
Glycogen Storage Disease
PMID 25093132 2014 Late-Onset Glycogen Storage Disease Type II (Pompe's Disease) with a Novel Mutation: A Malaysian Experience.
PMID 28433475 2017 Targeted population screening of late onset Pompe disease in unspecified myopathy patients for Korean population.
PMID 9535769 1998 Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype.
PMID 24444888 2014 Development of a feasible assay for the detection of GAA mutations in patients with Pompe disease.
PMID 21757382 2011 Rapid progressive course of later-onset Pompe disease in Chinese patients.
PMID 23430493 2013 Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease.
PMID 25526786 2014 Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation.
PMID 27099502 2016 Late-onset Pompe disease with complicated intracranial aneurysm: a Chinese case report.
PMID 21232767 2011 Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening.
PMID 7981676 1994 A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).
PMID 27363342 2017 Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders.
PMID 18458862 2008 Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II.
PMID 24008051 2014 The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease.
PMID 7881425 1994 Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation.
PMID 24150945 2014 Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents.
PMID 7717400 1995 Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.
PMID 21439876 2011 Pompe disease: design, methodology, and early findings from the Pompe Registry.
PMID 16917947 2006 Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.
PMID 26231297 2015 Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum.
PMID 17210890 2007 Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.
PMID 8558570 1995 Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.
PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
PMID 17616415 2007 Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation.
PMID 19790257 2009 Structural aspects of therapeutic enzymes to treat metabolic disorders.
PMID 20202878 2010 Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: from our experience of 4 cases including an autopsy case.
PMID 23884227 2013 Three patients with glycogen storage disease type II and the mutational spectrum of GAA in Korean patients.
PMID 19862843 2009 The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase.
PMID 17092519 2006 Two new missense mutations of GAA in late onset glycogen storage disease type II.
PMID 21471980 2011 Biochemical and structural study on a S529V mutant acid α-glucosidase responsive to pharmacological chaperones.
PMID 25213570 2014 Hypertrophic cardiomyopathy in pompe disease is not limited to the classic infantile-onset phenotype.
rs121918419 in
GYS2 gene and
Glycogen Storage Disease
PMID 20051115 2010 A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0.
PMID 9691087 1998 Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.
rs767095759 in
PFKM gene and
Glycogen Storage Disease
PMID 8880699 1996 Muscle phosphofructokinase deficiency in two generations.
PMID 9389749 1997 Deficiency of phosphofructo-1-kinase/muscle subtype in humans impairs insulin secretion and causes insulin resistance.
PMID 8037209 1994 Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency.
rs80356491 in
SLC37A4;TRAPPC4 gene and
Glycogen Storage Disease
PMID 10923042 2000 Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients.
PMID 9758626 1998 A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.
PMID 10323254 1999 Molecular diagnosis of type 1c glycogen storage disease.