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letter . 1998 Jun;62(6):1535–1539. doi: 10.1086/301873
Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation.
J Jaeken
, G Matthijs
, J M Saudubray
, C Dionisi-Vici
, E Bertini
, P de Lonlay
, H Henri
, H Carchon
, E Schollen
, E Van Schaftingen
J Jaeken
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G Matthijs
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J M Saudubray
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C Dionisi-Vici
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E Bertini
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P de Lonlay
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H Henri
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H Carchon
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E Schollen
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E Van Schaftingen
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PMCID: PMC1377152 PMID: 9585601