*  Glycogen Storage Disease Type I - NORD (National Organization for Rare Disorders)
Type I glycogen storage disease is inherited as an autosomal recessive genetic disorder. Glycogen storage disease type I (GSDI ... Guidelines for management of glycogen storage disease type I-European study on glycogen storage disease type I (ESGSD I). Eur J ... Subdivisions of Glycogen Storage Disease Type I. *glycogen storage disease type IA ... and inflammatory bowel disease in glycogen storage disease type 1b: results of the European study on glycogen storage disease ...
  https://rarediseases.org/rare-diseases/glycogen-storage-disease-type-i/
*  glycogen storage disease type VI - Genetics Home Reference
Glycogen storage disease type VI (also known as GSDVI or Hers disease) is an inherited disorder caused by an inability to break ... Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI. Hum Mol Genet. 1998 May;7(5): ... Glycogen Storage Disease Type VI. 2009 Apr 23 [updated 2011 May 17]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A ... High frequency of missense mutations in glycogen storage disease type VI. J Inherit Metab Dis. 2007 Oct;30(5):722-34. Epub 2007 ...
  https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vi
*  Glycogen storage disease type II - Wikipedia
"Type II Glycogen Storage Disease". The Association for Glycogen Storage Disease. Archived from the original on 23 June 2012. ... GeneReview/NIH/UW entry on Glycogen Storage Disease Type II (Pompe Disease) Fact files on Pompe Disease Understanding Pompe ... It is the only glycogen storage disease with a defect in lysosomal metabolism, and the first glycogen storage disease to be ... Genetics of Glycogen-Storage Disease Type II (Pompe Disease) at eMedicine Van der Ploeg AT, Kroos MA, Willemsen R, Brons NH, ...
  https://en.wikipedia.org/wiki/Glycogen_storage_disease_type_II
*  Type Ib Glycogen Storage Disease: Background, Pathophysiology, Epidemiology
These enzymes normally catalyze reactions that ultimately convert glycogen compounds to glucose. ... A glycogen storage disease (GSD) is the result of an enzyme defect. ... and Tarui disease (GSD type VII, phosphofructokinase deficiency). One form, Von Gierke disease (GSD type Ia, glucose-6- ... encoded search term (Type%20Ib%20Glycogen%20Storage%20Disease) and Type Ib Glycogen Storage Disease What to Read Next on ...
  https://emedicine.medscape.com/article/119412-overview
*  Genetics of Glycogen-Storage Disease Type II (Pompe Disease) Treatment & Management: Medical Care, Consultations, Diet
Pompe first described the disease in 1932 when he was presented with a 7-month-old girl who died after developing idiopathic ... also referred to as Pompe disease, is an autosomal recessive disorder that results from the deficiency of acid alpha- ... Genetics of Glycogen-Storage Disease Type II (Pompe Disease) * Sections Genetics of Glycogen-Storage Disease Type II (Pompe ... Drugs & Diseases , Pediatrics: Genetics and Metabolic Disease Genetics of Glycogen-Storage Disease Type II (Pompe Disease) ...
  https://emedicine.medscape.com/article/947870-treatment
*  Genetics of Glycogen-Storage Disease Type II (Pompe Disease) Follow-up: Further Outpatient Care, Complications
Pompe first described the disease in 1932 when he was presented with a 7-month-old girl who died after developing idiopathic ... also referred to as Pompe disease, is an autosomal recessive disorder that results from the deficiency of acid alpha- ... Genetics of Glycogen-Storage Disease Type II (Pompe Disease) * Sections Genetics of Glycogen-Storage Disease Type II (Pompe ... Drugs & Diseases , Pediatrics: Genetics and Metabolic Disease Genetics of Glycogen-Storage Disease Type II (Pompe Disease) ...
  https://emedicine.medscape.com/article/947870-followup
*  Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy
Keywords: Pompe disease, survival, acid maltase deficiency, lysosomal storage disease, glycogen storage disease type II, ... Pompe disease, synonymously 'acid maltase deficiency' or 'glycogen storage disease type II', is a metabolic myopathy caused by ... Schoser B, Hill V, Raben N. Therapeutic approaches in glycogen storage disease type II/Pompe Disease. Neurotherapeutics. 2008;5 ... Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease ...
  http://pubmedcentralcanada.ca/pmcc/articles/PMC3135500/
*  Glycogen phosphorylase - Wikipedia
Disease (glycogen storage disease type VI).[18][19] Hers' disease is often associated with mild symptoms normally limited to ... Glucagon activates adenylate cyclase through a seven transmembrane receptor coupled to Gs which, in turn, activates adenylate ... Mutations in the muscle isoform of glycogen phosphorylase (PYGM) are associated with glycogen storage disease type V (GSD V, ... GeneReviews/NCBI/NIH/UW entry on Glycogen Storage Disease Type VI - Hers disease ...
  https://en.wikipedia.org/wiki/Glycogen_phosphorylase
*  Glycogen storage disease type 0 - Wikipedia
"Glycogen-Storage Disease Type 0" "Orphanet: Glycogen storage disease due to hepatic glycogen synthase deficiency". www.orpha. ... e condition glycogen storage disease type 0 to be considered, they are: Glycogen storage disease due to liver glycogen synthase ... oligosymptomatic siblings in several glycogen-storage disease type 0 families has suggested that glycogen-storage disease type ... Glycogen storage disease type 0 is a disease characterized by a deficiency in the glycogen synthase enzyme (GYS). Although ...
  https://en.wikipedia.org/wiki/Glycogen_storage_disease_type_0
*  Liver microsomal transport of glucose-6-phosphate, glucose, and phosphate in type 1 glycogen storage disease.
... isolated from six patients with various subtypes of type 1 glycogen storage disease (GSD), was measured using a light- ... Glycogen Storage Disease Type I / metabolism*. Humans. Kinetics. Microsomes, Liver / metabolism*. Phosphates / metabolism. Rats ... isolated from six patients with various subtypes of type 1 glycogen storage disease (GSD), was measured using a light- ... We found that G6P, glucose, and phosphate could all cross the microsomal membrane, in four cases of type 1a GSD. In contrast, ...
  http://www.biomedsearch.com/nih/Liver-microsomal-transport-glucose-6/9435446.html
*  PYGL - Wikipedia
PYGL has been implicated in glycogen storage disease type VI, also known as Hers disease, and both type 1 and type 2 diabetes. ... In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the ... Glycogen-induced hepatomegaly in type 1 diabetes and glycogen storage disease type VI present similar clinical manifestations ... "Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI". Human Molecular Genetics. 7 ...
  https://en.wikipedia.org/wiki/PYGL
*  Phosphoglycerate mutase - Wikipedia
Deficiency of phosphoglycerate mutase causes glycogen storage disease type VI (GSD VI, Hers' disease), a rare autosomal ... Glycogen storage disease type X).[citation needed] Onset is generally noted as childhood to early adult though some who may be ... The mb-isozyme is found in cardiac and skeletal muscle and the bb-type is found in the rest of tissues. While all three ... The disease is not progressive and has an excellent prognosis.[citation needed] BPGM; PFKFB1; PFKFB2; PFKFB3; PFKFB4; PGAM1; ...
  https://en.wikipedia.org/wiki/Phosphoglycerate_mutase
*  PYGM Gene - GeneCards | PYGM Protein | PYGM Antibody
Glycogen Phosphorylase, Muscle Associated, including: function, proteins, disorders, pathways, orthologs, and expression. ... multiple endocrine neoplasia, type i. *men1. *9272177. glycogen storage disease vii. *gsd7 ... Diseases associated with PYGM include Glycogen Storage Disease V and Glycogen Storage Disease. Among its related pathways are ... benign, Glycogen storage disease, type V. 64,753,557(-). G/A/C/T. coding_sequence_variant, synonymous_variant. ...
  https://www.genecards.org/cgi-bin/carddisp.pl?gene=PYGM
*  G6PC - Wikipedia
Defects in the enzyme cause glycogen storage disease type I (von Gierke disease). Click on genes, proteins and metabolites ... Narisawa K, Igarashi Y, Otomo H, Tada K (1978). "A new variant of glycogen storage disease type I probably due to a defect in ... 1997). "Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies". Am. J. Med. Genet. 72 (3): ... Burchell A, Waddell ID (1990). "Diagnosis of a novel glycogen storage disease: type 1aSP". J. Inherit. Metab. Dis. 13 (3): 247- ...
  https://en.wikipedia.org/wiki/G6PC
*  Shapiro - Senapathy Algorithm - Wikipedia
Identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III ... deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease ... In addition, other diseases such as diabetes, hypertension, marfan syndrome, cystic fibrosis, cardiac diseases, eye disorders, ... Thus, any error in this program caused by mutations will alter the normal state and lead to disease. RNA splicing is ...
  https://en.wikipedia.org/wiki/Shapiro_-_Senapathy_Algorithm
*  ARTICLES | Physiological Genomics
pompe's disease or glycogen storage disease type II (GSD II) is an autosomal recessive and often fatal disease caused by ... Left ventricular weight-to-body weight ratios were increased 6.3 ± 0.8 mg/g in seven KO compared with 3.2 ± 0.2 mg/g in eight ... Echocardiographic and pulsed Doppler features in glycogen storage disease type II of the heart (Pompe's disease). Acta Cardiol ... Walvoort HC, Slee RG, and Koster JF. Canine glycogen storage disease type II. A biochemical study of an acid alpha-glucosidase- ...
  http://physiolgenomics.physiology.org/content/5/4/171.most-read
*  Childhood Liver Cancer Treatment (PDQ®): Treatment - Health Professional Information [NCI] - North Kansas City Hospital, Kansas...
Ito E, Sato Y, Kawauchi K, et al.: Type 1a glycogen storage disease with hepatoblastoma in siblings. Cancer 59 (10): 1776-80, ... Seven of ten children who presented with metastases and ten of ten children who received orthotopic liver transplantation ... Hepatocellular carcinoma complicating liver cirrhosis in type IIIa glycogen storage disease. J Clin Gastroenterol 31 (1): 80-2 ... Glycogen storage diseases I-IV[13]. Symptoms vary by individual disorder.. Low-birth-weight infants[3,4,5,14,15]. Preterm and ...
  http://www.nkch.org/patients-visitors/health-library/healthwise-document-viewer/?id=ncicdr0000062836
*  References - Muscular Dystrophy - Fitness VIP
Schoser, B., Hill, V., Raben, N. (2008). Therapeutic approaches in glycogen storage disease type II/Pompe Disease. ... Sustained correction of glycogen storage disease type II using adeno-associated virus serotype 1 vectors. Gene Ther 12, 1405- ... Efficacy of an adeno-associated virus 8-pseudotyped vector in glycogen storage disease type II. Mol Ther 11, 57-65. ... Glycogen storage disease II: Acid-alpha glucosidase (acid maltase) deficiency. In: Metabolic Basis of Inherited Disease, C.R. ...
  https://www.fitness-vip.com/muscular-dystrophy/references-omv.html
*  Glucose-6-Phosphat-Austauscher SLC37A4
al. (1999) Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and ... al. (2001) A molecular link between the common phenotypes of type 1 glycogen storage disease and HNF1alpha-null mice. ... al. (2002) Structure-function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib. ... al. (1997) Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib. ...
  http://www.moldiag.com/de/id/G0529
*  Metabolic Myopathies: Overview, Types of Myopathies, Classification
Acid maltase deficiency (Pompe disease; glycogen storage disease II), one of the 2 most common glycogen storage diseases, is a ... Glycogenosis type VII - Phosphofructokinase deficiency; Tarui disease; autosomal recessive (12q13.3). * Glycogenosis type VIII ... McArdle Disease. McArdle disease (myophosphorylase deficiency; glycogenosis type V), the other most common glycogen storage ... Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II ...
  https://emedicine.medscape.com/article/1173338-overview
*  Glycogen storage disease types I and II: Treatment updates | Springer for Research & Development
... which in the case of glycogen storage disease (GSD) type II (GSD II; Pompe disease) remained... ... Prior to 2006 therapy for glycogen storage diseases consisted primarily of dietary interventions, ... Enzyme Replacement Therapy Newborn Screening Glycogen Storage Disease Pompe Disease Glycogen Storage Disease Type These ... which in the case of glycogen storage disease (GSD) type II (GSD II; Pompe disease) remained essentially palliative. Despite ...
  https://rd.springer.com/article/10.1007/s10545-007-0519-9
*  KAKEN - Research Projects | Genetic polymorphism and susceptibility of common cancer (KAKENHI-PROJECT-10470056)
1998 - 2001, Research Category:Grant-in-Aid for Scientific Research (B), Section:一般, Research Field:Experimental pathology ... Publications] Toshifumi Nakamura: 'Hepatocellular Carcinoma in Type 1a Glycogen Storage Disease with Identification of a ... Publications] Toshifumi Nakamura, Haruhiko Sugimura: 'Hepatocellular Carcinoma in Type la Glycogen Storage Disease with ... Publications] Shinmura K,Sugimura H.et al.: 'Expression of the OGG1-type 1a (nuclear form) protein in cancerous and non- ...
  https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-10470056/
*  Vitamin C inhibits free radical damage in runners - Nutrition Express Articles
Increase glycogen storage during recovery. by Edmund R. Burke, Ph.D.. Lipoic acid supplementation and tissue glutathione ... Seven ingested 1 gram of vitamin C prior to a 4-hour race, and the other seven did not take a supplement. Blood samples were ... These products are not intended to diagnose, treat, cure or prevent any disease. Product results may vary from person to person ...
  https://www.nutritionexpress.com/article+index/authors/edmund+r+burke+phd/showarticle.aspx?id=19
*  Frontiers | Recent Advances in the Molecular Genetics of Familial Hypertrophic Cardiomyopathy in South Asian Descendants |...
This disease displays autosomal dominant inheritance, and it is associated with a large number of variants in both sarcomeric ... This disease displays autosomal dominant inheritance, and it is associated with a large number of variants in both sarcomeric ... The objective of this review is to report the history of cardiovascular disease and HCM in South Asians, present previously ... The objective of this review is to report the history of cardiovascular disease and HCM in South Asians, present previously ...
  https://www.frontiersin.org/articles/10.3389/fphys.2016.00499/full
*  Inherited Renal Tubular Disorders | SpringerLink
Brodehl J, Gelessen K, Hagge W: The Fanconi syndrome in hepatorenal glycogen storage disease in progress. In: G Peiters, F Roch ... Incidence of radiographically evident bone disease, nephrocalcinosis, and nephrolithiasis in various types of renal tubular ... McSherry E; Acidosis and growth in nonuremic renal disease. Kidney Int 14: 349-354, 1978.PubMedCrossRefGoogle Scholar ... Beam AG, Yu TF, Gutman AB: Renal function in Wilson's disease. J Clin Invest 36: 1107-1114, 1957.CrossRefGoogle Scholar ...
  https://link.springer.com/chapter/10.1007/978-1-4757-6632-5_40