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IDENTIFICATION OF THE GENETIC-DEFECT IN A VARIANT OF CDG SYNDROME TYPE-I - MUTATIONS IN THE PMI GENE RESULT IN A SEVERE, BUT POTENTIALLY TREATABLE DISORDER
Authors: MATTHIJS G SCHOLLEN E SAUDUBRAY JM DELONLAY P DIONISIVICI C BERTINI E HENRI H CASSIMAN JJ JAEKEN J VANSCHAFTINGEN E
Citation: G. Matthijs et al., IDENTIFICATION OF THE GENETIC-DEFECT IN A VARIANT OF CDG SYNDROME TYPE-I - MUTATIONS IN THE PMI GENE RESULT IN A SEVERE, BUT POTENTIALLY TREATABLE DISORDER, European journal of human genetics, 6, 1998, pp. 5006-5006
PHOSPHOMANNOSE ISOMERASE DEFICIENCY - A CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME WITH HEPATIC-INTESTINAL PRESENTATION
Authors: JAEKEN J MATTHIJS G SAUDUBRAY JM DIONISIVICI C BERTINI E DELONLAY P HENRI H CARCHON H SCHOLLEN E VANSCHAFTINGEN E
Citation: J. Jaeken et al., PHOSPHOMANNOSE ISOMERASE DEFICIENCY - A CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME WITH HEPATIC-INTESTINAL PRESENTATION, American journal of human genetics, 62(6), 1998, pp. 1535-1539
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