Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation.
(1998) American Journal of Human Genetics — Vol. 62, n° 6, p. 1535-1539 (1998)
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Jaeken, J., Matthijs, G., Saudubray, J. M., 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. American Journal of Human Genetics, 62(6), 1535-1539. https://doi.org/10.1086/301873 (Original work published 1998)