• Thumbnail for Glycogen storage disease
    A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by a deficiency of an enzyme or transport protein affecting...
    69 KB (6,177 words) - 07:53, 2 November 2024
  • type VIII Glycogenosis Glycogenosis type II Glycogenosis type III Glycogenosis type IV Glycogenosis type V Glycogenosis type VI Glycogenosis type VII Glycogenosis...
    10 KB (846 words) - 12:38, 3 March 2024
  • deficiency Glycogenosis type 1a Glycogenosis type 1b Glycogenosis type 3 Glycogenosis type 6 Glycogenosis type 9a Glycogenosis type 9b Glycogenosis type 9c...
    21 KB (1,265 words) - 01:46, 22 December 2023
  • Thumbnail for Glycogen storage disease type V
    1987). "Myogenic hyperuricemia. A common pathophysiologic feature of glycogenosis types III, V, and VII". The New England Journal of Medicine. 317 (2):...
    58 KB (6,662 words) - 11:10, 11 December 2024
  • Thumbnail for Glycogen storage disease type IV
    literature for the disease include:[citation needed] Andersen's triad Glycogenosis type IV Glycogen branching enzyme deficiency Polyglucosan body disease...
    8 KB (897 words) - 12:37, 31 October 2024
  • Thumbnail for Periodic acid–Schiff stain
    glycogen in lung biopsy specimens of infants with pulmonary interstitial glycogenosis (PIG). It can be used to highlight super cross-linked lipids inclusions...
    6 KB (632 words) - 18:03, 15 November 2024
  • Thumbnail for PHKA2
    Library of Medicine. Willems P (Sep 1990). "Families with X-linked liver glycogenosis due to phosphorylase kinase deficiency". Clin Genet. 38 (1): 80. doi:10...
    7 KB (938 words) - 05:44, 24 December 2023
  • Thumbnail for Glycogen storage disease type 0
    Glycogen storage disease type 0 is a disease characterized by a deficiency in the glycogen synthase enzyme (GSY). Although glycogen synthase deficiency...
    12 KB (1,413 words) - 12:43, 31 October 2024
  • Fanconi–Bickel syndrome is a form of glycogen storage disease named for Guido Fanconi and Horst Bickel, who first described it in 1949. It is associated...
    3 KB (257 words) - 13:41, 31 October 2024
  • Thumbnail for Glycogenolysis
    phosphorolysis, by the enzyme glycogen phosphorylase. In the muscles, glycogenosis begins due to the binding of cAMP to phosphorylate kinase, converting...
    6 KB (673 words) - 15:36, 24 October 2024
  • Thumbnail for Glycogen storage disease type II
    Glycogen storage disease type II (GSD-II), also called Pompe disease, and formerly known as GSD-IIa or Limb–girdle muscular dystrophy 2V, is an autosomal...
    36 KB (4,293 words) - 02:25, 1 December 2024
  • Thumbnail for Phosphofructokinase deficiency
    (1965). "Phosphofructokinase Deficiency In Skeletal Muscle. A New Type Of Glycogenosis". Biochem. Biophys. Res. Commun. 19 (4): 517–523. doi:10.1016/0006-291X(65)90156-7...
    18 KB (1,900 words) - 14:16, 12 October 2024
  • Thumbnail for Glycogen branching enzyme
    "Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)". Neurology. 63 (6): 1053–1058. doi:10.1212/01.wnl.0000138429...
    25 KB (2,823 words) - 19:18, 29 August 2024
  • Thumbnail for Glycogen storage disease type VI
    Glycogen storage disease type VI (GSD VI) is a type of glycogen storage disease caused by a deficiency in liver glycogen phosphorylase or other components...
    4 KB (295 words) - 12:15, 31 October 2024
  • Thumbnail for Glycogen storage disease type III
    Glycogen storage disease type III (GSD III) is an autosomal recessive metabolic disorder and inborn error of metabolism (specifically of carbohydrates)...
    11 KB (997 words) - 15:09, 29 July 2024
  • Thumbnail for Macroglossia
    1007/s00247-008-0941-7. PMID 18685841. S2CID 22012119. "Mucopolysaccharidosis type I". "Glycogenosis type II and Pompe's disease". Archived from the original on 23 November...
    12 KB (1,050 words) - 18:56, 3 September 2024
  • Thumbnail for Phosphoglucomutase
    as glycogen storage disease type 14 (GSD XIV). The disease is both a glycogenosis and a congenital disorder of glycosylation. It is also a metabolic myopathy...
    21 KB (2,346 words) - 01:07, 24 March 2024
  • Thumbnail for Hyperuricemia
    Tarui S. Myogenic hyperuricemia. A common pathophysiologic feature of glycogenosis types III, V, and VII. N Engl J Med. 1987 Jul 9;317(2):75-80. doi: 10...
    28 KB (3,247 words) - 17:20, 21 November 2024
  • (1987-07-09). "Myogenic hyperuricemia. A common pathophysiologic feature of glycogenosis types III, V, and VII". The New England Journal of Medicine. 317 (2):...
    29 KB (3,271 words) - 02:51, 27 May 2024
  • Thumbnail for Amylopectin
    mechanical forces prevalent in bone, cardiac, and endothelial tissue. Glycogenosis type IV Amflora, a genetically modified potato high in amylopectin (low...
    33 KB (3,879 words) - 21:52, 25 November 2024
  • Thumbnail for Acid alpha-glucosidase
    Verbeet MP, Van Diggelen OP, Kleijer WJ, Van der Ploeg AT (1995). "Glycogenosis type II (acid maltase deficiency)". Muscle & Nerve. Supplement. 3: S61-9...
    9 KB (1,157 words) - 11:45, 15 November 2024
  • Thumbnail for Hitting the wall
    (1987-07-09). "Myogenic hyperuricemia. A common pathophysiologic feature of glycogenosis types III, V, and VII". The New England Journal of Medicine. 317 (2):...
    13 KB (1,468 words) - 00:58, 30 October 2024
  • Beta-thalassemia Bethlem myopathy Bhaskar Jagannathan syndrome Bickel Fanconi glycogenosis Bicuspid aortic valve Bidirectional tachycardia Biemond syndrome Biemond...
    12 KB (1,049 words) - 21:37, 16 August 2024
  • Thumbnail for Inborn errors of carbohydrate metabolism
    PRKAG2 gene have been traced to fatal congenital nonlysosomal cardiac glycogenosis; PRKAG2 is a noncatalytic gamma subunit of AMP-activated protein kinase...
    59 KB (2,814 words) - 15:05, 31 October 2024
  • control is attempted. Another aspect of this phenomenon occurs in type I glycogenosis, when chronic hypoglycemia before diagnosis may be better tolerated than...
    7 KB (764 words) - 14:37, 20 January 2024
  • Thumbnail for Glycogen phosphorylase
    "Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI". American Journal of Human Genetics. 62 (4): 785–91. doi:10...
    26 KB (2,918 words) - 16:51, 15 September 2024
  • Thumbnail for Phosphofructokinase
    correlated with the increased amount of PFKL. Deficiency in PFK leads to glycogenosis type VII (Tarui's disease), an autosomal recessive disorder characterised...
    10 KB (1,044 words) - 08:43, 10 June 2024
  • Thumbnail for Glycogen storage disease type I
    (1985). "Pathologic studies of the osteoporosis of Von Gierke's disease (glycogenosis 1a)". Pediatric Pathology. 3 (2–4): 307–319. doi:10.3109/15513818509078791...
    45 KB (5,801 words) - 16:07, 11 October 2024
  • Thumbnail for Metabolic myopathy
    Hokezu Y, Nagamatsu K, Nakagawa M, Osame M, Ohnishi A (June 1983). "[Glycogenosis type III with peripheral nerve disorder and muscular hypertrophy in an...
    51 KB (5,290 words) - 14:37, 30 October 2024
  • Thumbnail for Glucan 1,4-α-glucosidase
    (October 1965). "The subcellular distribution of enzymes in type II glycogenosis and the occurrence of an oligo-α-1,4-glucan glucohydrolase in human tissues"...
    4 KB (378 words) - 22:04, 26 November 2024