Seminars in Pediatric Neurology
Volume 13, Issue 2 , Pages 115-120 , June 2006

Glycogen Storage Disease: Clinical, Biochemical, and Molecular Heterogeneity

  • Yoon S. Shin, PhD

      Affiliations

    • Corresponding Author InformationAddress reprint requests to Yoon S. Shin, PhD, Molecular Genetics and Metabolism Laboratory, Theresienstrasse 29, 80333 Munich, Germany.

References 

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  8. Shin YS. Diagnosis of glycogen storage disease. J Inherit Metab Dis. 1990;13:419–434
  9. Gerin I, Veiga-da-Cunha M, Achouri Y, et al. Sequence of a putative glucose 6-phosphate translocase gene, mutations in GSD type Ib. FEBS Lett. 1997;419:235–238
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  12. Fenske CD, Jeffery S, Weber JL, et al. Localisation of the gene for glycogen storage disease type Ic by homozygosity mapping to 11q. J Med Genet. 1998;35:262–272
  13. Anneser JMH, Pongratz DE, Podskarbi T, et al. Mutations in the acid α-glucosidase gene in a patient with an unusual phenotype. Neurology. 2005;64:368–370
  14. Sharma MC, Schultze C, Shin YS, et al. Delayed or late-onset type II glycogenosis with globular inclusions. Acta Neuropathol (Berl). 2005;110:151–157
  15. Reuser AJJ. Pompe disease: A spectrum of phenotypes. 1st International Symposium on Pompe Disease. 2006;Berlin, Germany, April 5-6 (abstr)
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  21. A mutation data base. 2000;Available at: http://www.eur.nl/fgg/ch1/pompe/mutation.htm. Accessed
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  26. The mutations in the AGL gene. 1993;Available at: http://www.hgmd.org. Accessed
  27. Shin YS, Imgrund M, Podskarbi T, et al. Myopathien bei Glykogenosen. In:  Gross M,  Gresser U editor. Molekulare Grundlage Hereditärer Myopathien. Munich: Zuckschwerdt Verlag; 1995;p. 28–36
  28. Shin YS. Cardiomyopathy due to glycogen storage disease other than Pompe disease. In:  Böhles HJ,  Hoffstetter R,  Sewell A editor. Metabolic Cardiomyopathy. Stuttgart, Wissenschaftl: Verlags-GmbH; 1995;p. 115–117
  29. Goebel HH, Shin YS, Gullotta F, et al. Adult polyglucosan body myopathy. J Neuropathol Exp Neurol. 1992;51:24–35
  30. Schröder JM, May R, Shin YS, et al. New variant of polyglucosan body disease due to late juvenile hereditary type IV glycogenosis with complete brancher enzyme deficiency. Acta Neuropathol (Berl). 1993;85:419–430
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  33. Bornemann A, Besser R, Shin YS, et al. A mild adult myopathic variant of type IV glycogenosis. Neuromuscul Disord. 1996;6:55–59
  34. Schwab KO, Marx A, Shin YS, et al. Type IV glycogen storage disease. Padiatr Padol. 1994;29:115–122
  35. Sindern E, Patzold T, Vorgerd M, et al. Adulte Polyglukosankörperkrankheit. Nervenarzt. 1999;70:745–749
  36. Shin YS, Steigüber H, Klemm P, et al. Branching enzyme in erythrocytes (Detection of type IV glycogenosis homozygotes and heterozygotes). J Inherit Metab Dis. 1988;11:252–254
  37. Thon VJ, Khalil M, Cannon JF. Isolation of human glycogen branching enzyme cDNAs by screening complementation in yeast. J Biol Chem. 1993;268:7509–7513
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  44. Elleder M, Shin YS, Podskarbi T, Zuntova A, Vojtovic P, Chalupecky V. Fatal infantile hypertrophic cardiomyopathy due to deficiency of heart specific phosphorylase b kinase. Virchows Arch A. 1993;423:303–307
  45. Shin YS, Plöchl E, Podskarbi T, Muss WH, Pilz P, Puttinger R. Fatal infantile arthrogryposis with respiratory insufficiency: a possible case of muscle phosphorylase b kinase deficiency. J Inher Metab Dis. 1994;17:149–150
  46. Hendricks J, Coucker P, Hors-Cayla M, Smit PA, Shin YS. Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver α-subunit of phosphorylase kinase (PHKA2). Genomics. 1994;21:620–625
  47. Franke U, Darras BT, Zander NF, et al. Assignment of human genes for phosphorylase kinase subunit alpha (PHKA) to Xq12-q13 and β (PHKB) to 16q12-q13. Am J Hum Genet. 1989;45:276–282
  48. Burwinkel B, Shin YS, Bakker HD, et al. Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG type 2). Hum Mol Genet. 1996;5:653–658
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  50. Whitmore A, Apostolou S, Lane S, et al. Isolation and characterization of transcribed sequence from a chromosome 16. Genomics. 1994;20:169–175
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  53. Nuthal FQ. The human liver glycogen synthase isozyme gene is located on the short arm of chromosome 12. Genomics. 1994;19:404–405
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PII: S1071-9091(06)00097-0

doi: 10.1016/j.spen.2006.06.007

Seminars in Pediatric Neurology
Volume 13, Issue 2 , Pages 115-120 , June 2006

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