A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases.

de Lonlay, P;Seta, N;Barrot, S;Chabrol, B;Cormier-Daire, V;et.al.
(2001) Journal of Medical Genetics : an international peer-reviewed journal for health professionals and researchers in all areas of genetics — Vol. 38, n° 1, p. 14-19 (2001)

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Authors
  • de Lonlay, P
    Author
  • Seta, N
    Author
  • Barrot, S
    Author
  • Chabrol, B
    Author
  • Van Schaftingen, EmileUCLouvain
    Author
  • Cormier-Daire, V
    Author
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Abstract
Owing to the remarkable clinical variability of CDG, this novel disease probably remains largely underdiagnosed. The successful treatment of CDG Ib patients with oral mannose emphasises the paramount importance of early diagnosis of PMI deficiency.
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de Lonlay, P., Seta, N., Barrot, S., Chabrol, B., Drouin, V., Gabriel, B. M., Journel, H., Kretz, M., Laurent, J., Le Merrer, M., Leroy, A., Pedespan, D., Sarda, P., Villeneuve, N., Schmitz, J., Van Schaftingen, E., Matthijs, G., Jaeken, J., Korner, C., et al. (2001). A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases. Journal of Medical Genetics : an international peer-reviewed journal for health professionals and researchers in all areas of genetics, 38(1), 14-19. https://doi.org/10.1136/jmg.38.1.14 (Original work published 2001)