Phosphomannose isomerase deficiency: A carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation [1]

J. Jaeken, G. Matthijs, J. M. Saudubray, C. Dionisi-Vici, E. Bertini, P. De Lonlay, H. Henri, H. Carchon, E. Schollen, E. Van Schaftingen

Research output: Contribution to journalArticle

Original languageEnglish
Pages (from-to)1535-1539
Number of pages5
JournalAmerican Journal of Human Genetics
Volume62
Issue number6
DOIs
Publication statusPublished - 1998

ASJC Scopus subject areas

  • Genetics

Cite this

Phosphomannose isomerase deficiency : A carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation [1]. / Jaeken, J.; Matthijs, G.; Saudubray, J. M.; Dionisi-Vici, C.; Bertini, E.; De Lonlay, P.; Henri, H.; Carchon, H.; Schollen, E.; Van Schaftingen, E.

In: American Journal of Human Genetics, Vol. 62, No. 6, 1998, p. 1535-1539.

Research output: Contribution to journalArticle

Jaeken, J, Matthijs, G, Saudubray, JM, Dionisi-Vici, C, Bertini, E, De Lonlay, P, Henri, H, Carchon, H, Schollen, E & Van Schaftingen, E 1998, 'Phosphomannose isomerase deficiency: A carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation [1]', American Journal of Human Genetics, vol. 62, no. 6, pp. 1535-1539. https://doi.org/10.1086/301873
Jaeken, J. ; Matthijs, G. ; Saudubray, J. M. ; Dionisi-Vici, C. ; Bertini, E. ; De Lonlay, P. ; Henri, H. ; Carchon, H. ; Schollen, E. ; Van Schaftingen, E. / Phosphomannose isomerase deficiency : A carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation [1]. In: American Journal of Human Genetics. 1998 ; Vol. 62, No. 6. pp. 1535-1539.
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