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Results: 1-12 |
Results: 12

Authors: CODDEVILLE B CARCHON H JAEKEN J BRIAND G SPIK G
Citation: B. Coddeville et al., DETERMINATION OF GLYCAN STRUCTURES AND MOLECULAR MASSES OF THE GLYCOVARIANTS OF SERUM TRANSFERRIN FROM A PATIENT WITH CARBOHYDRATE-DEFICIENT SYNDROME TYPE-II, Glycoconjugate journal, 15(3), 1998, pp. 265-273

Authors: BARONE R CARCHON H JANSEN E PAVONE L FIUMARA A BOSSHARD NU GITZELMANN R JAEKEN J
Citation: R. Barone et al., LYSOSOMAL-ENZYME ACTIVITIES IN SERUM AND LEUKOCYTES FROM PATIENTS WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE IA (PHOSPHOMANNOMUTASE DEFICIENCY), Journal of inherited metabolic disease, 21(2), 1998, pp. 167-172

Authors: BURDA P BORSIG L DERIJKVANANDEL J WEVERS R JAEKEN J CARCHON H BERGER EG AEBI M
Citation: P. Burda et al., A NOVEL CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME CHARACTERIZED BYA DEFICIENCY IN GLUCOSYLATION OF THE DOLICHOL-LINKED OLIGOSACCHARIDE, The Journal of clinical investigation, 102(4), 1998, pp. 647-652

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

Authors: JAEKEN J MATTHIJS G BARONE R CARCHON H
Citation: J. Jaeken et al., CARBOHYDRATE-DEFICIENT GLYCOPROTEIN (CDG) SYNDROME TYPE-I, Journal of Medical Genetics, 34(1), 1997, pp. 73-76

Authors: JAEKEN J DETHEUX M VANMALDERGEM L FRIJNS JP ALLIET P FOULON M CARCHON H VANSCHAFTINGEN E
Citation: J. Jaeken et al., 3-PHOSPHOGLYCERATE DEHYDROGENASE-DEFICIENCY AND 3-PHOSPHOSERINE PHOSPHATASE DEFICIENCY - INBORN-ERRORS OF SERINE BIOSYNTHESIS, Journal of inherited metabolic disease, 19(2), 1996, pp. 223-226

Authors: JAEKEN J DETHEUX M VANMALDERGEM L FOULON M CARCHON H VANSCHAFTINGEN E
Citation: J. Jaeken et al., 3-PHOSPHOGLYCERATE DEHYDROGENASE-DEFICIENCY - AN INBORN ERROR OF SERINE BIOSYNTHESIS, Archives of Disease in Childhood, 74(6), 1996, pp. 542-545

Authors: NOVIKOV DK VANHOVE GF CARCHON H ASSELBERGHS S EYSSEN HJ VANVELDHOVEN PP MANNAERTS GP
Citation: Dk. Novikov et al., PEROXISOMAL BETA-OXIDATION - PURIFICATION OF 4 NOVEL 3-HYDROXYACIL-COA DEHYDROGENASES FROM RAT-LIVER PEROXISOMES, The Journal of biological chemistry, 269(43), 1994, pp. 27125-27135

Authors: JAEKEN J SCHACHTER H CARCHON H DECOCK P CODDEVILLE B SPIK G
Citation: J. Jaeken et al., CARBOHYDRATE-DEFICIENT GLYCOPROTEIN-SYNDROME TYPE-II - A DEFICIENCY IN GOLGI LOCALIZED N-ACETYL-GLUCOSAMINYLTRANSFERASE-II, Archives of Disease in Childhood, 71(2), 1994, pp. 123-127

Authors: JAEKEN J CARCHON H STIBLER H
Citation: J. Jaeken et al., THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROMES - PRE-GOLGI AND GOLGI DISORDERS, Glycobiology, 3(5), 1993, pp. 423-428

Authors: JAEKEN J DECOCK P STIBLER H VANGEET C KINT J RAMAEKERS V CARCHON H
Citation: J. Jaeken et al., CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-II, Journal of inherited metabolic disease, 16(6), 1993, pp. 1041-1041

Authors: JAEKEN J CARCHON H
Citation: J. Jaeken et H. Carchon, THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROMES - AN OVERVIEW, Journal of inherited metabolic disease, 16(5), 1993, pp. 813-820
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