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Congenital Disorders of Glycosylation (CDG) – CDG-Krankheiten

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Angeborene Stoffwechselkrankheiten bei Erwachsenen
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Zusammenfassung

»Congenital disorders of glycosylation« (CDG; angeborene Glykosylierungskrankheiten) umfassen eine Gruppe von Stoffwechselkrankheiten, die durch eine fehlerhafte Glykosylierung von Proteinen oder Lipiden entstehen.

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Literatur

  1. Jaecken J (2012) Congenital disorders of glycosylation. In: Saudubray JM, Berghe G van den, Walter JH (Hrsg) Inborn metabolic diseases. 5. Aufl. Springer, Berlin, S 607–616

    Google Scholar 

  2. Eklund EA, Freeze HH (2006) The congenital disorders of glycosylation: a multifaceted group of syndromes. NeuroRx 3:254–263

    Google Scholar 

  3. Niehues R, Hasilik M, Alton G et al (1998) Carbohydrate- deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy. J Clin Invest 101:1414–1420

    Google Scholar 

  4. Jaeken J, Vanderschueren-Lodeweyckx M, Casaer P et al (1980) Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG-deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome? Pediatr Res 14:S179

    Google Scholar 

  5. Jaeken J, Carchon H, Stibler H (1993) The carbohydrate- deficient glycoprotein syndromes: pre-Golgi and Golgi disorders? Glycobiology 3:423–428

    Google Scholar 

  6. Ramaekers VT, Stibler H, Kint J, Jaeken J (1991) A new variant of the carbohydrate deficient glycoprotein syndrome. J Inherit Metab Dis 14:385–388

    Google Scholar 

  7. Hagberg BA, Blennow G, Kristiansson B, Stibler H (1993) Carbohydrate-deficient glycoprotein syndromes: peculiar group of new disorders. Pediatr Neurol 9:255–262

    Google Scholar 

  8. Aebi M, Helenius A, Schenk B et al (1999) Carbohydrate- deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS. Glycoconj J 16:669–671

    Google Scholar 

  9. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation (CDG). J Inherit Metab Dis 31:669–672

    Google Scholar 

  10. Grünewald S (2009) The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia). Biochim Biophys Acta 1792:827–834

    Google Scholar 

  11. Van Schaftingen E, Jaeken J (1995) Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS Lett 377:318–320

    Google Scholar 

  12. Marquardt T, Denecke J (2003) Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies. Eur J Pediatr 162:359–379

    Google Scholar 

  13. Tegtmeyer LC, Rust S, van Scherpenzeel M et al (2014) Multiple phenotypes in phosphoglucomutase 1 deficiency. N Engl J Med 370:533–542

    Google Scholar 

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Tegtmeyer, L., Marquardt, T. (2014). Congenital Disorders of Glycosylation (CDG) – CDG-Krankheiten. In: vom Dahl, S., Lammert, F., Ullrich, K., Wendel, U. (eds) Angeborene Stoffwechselkrankheiten bei Erwachsenen. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-45188-1_18

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  • DOI: https://doi.org/10.1007/978-3-642-45188-1_18

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-45187-4

  • Online ISBN: 978-3-642-45188-1

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