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1. Schachter, H
   Congenital disorders involving defective N-glycosylation of proteins
   CELLULAR AND MOLECULAR LIFE SCIENCES
   
   H. Schachter, "Congenital disorders involving defective N-glycosylation of proteins", CELL MOL L, 58(8), 2001, pp. 1085-1104
2. Westphal, V; Peterson, S; Patterson, M; Tournay, A; Blumenthal, A; Treacy, EP; Freeze, HH
   Functional significance of PMM2 mutations in mildly affected patients withcongenital disorders of glycosylation Ia
   GENETICS IN MEDICINE
   
   V. Westphal et al., "Functional significance of PMM2 mutations in mildly affected patients withcongenital disorders of glycosylation Ia", GENET MED, 3(6), 2001, pp. 393-398
3. Westphal, V; Enns, GM; McCracken, MF; Freeze, HH
   Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry
   MOLECULAR GENETICS AND METABOLISM
   
   V. Westphal et al., "Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry", MOL GEN MET, 73(1), 2001, pp. 71-76
4. Heykants, L; Schollen, E; Grunewald, S; Matthijs, G
   Identification and localization of two mouse phosphomannomutase genes, Pmm1 and Pmm2
   GENE
   
   L. Heykants et al., "Identification and localization of two mouse phosphomannomutase genes, Pmm1 and Pmm2", GENE, 270(1-2), 2001, pp. 53-59
5. Freeze, HH
   Congenital disorders of glycosylation and the pediatric liver
   SEMINARS IN LIVER DISEASE
   
   H.H. Freeze, "Congenital disorders of glycosylation and the pediatric liver", SEM LIV DIS, 21(4), 2001, pp. 501-515
6. Drouin-Garraud, V; Belgrand, M; Grunewald, S; Seta, N; Dacher, JN; Henocq, A; Matthijs, G; Cormier-Daire, V; Frebourg, T; Saugier-Veber, P
   Neurological presentation of a congenital disorder of glycosylation CDG-Ia: Implications for diagnosis and genetic counseling
   AMERICAN JOURNAL OF MEDICAL GENETICS
   
   V. Drouin-Garraud et al., "Neurological presentation of a congenital disorder of glycosylation CDG-Ia: Implications for diagnosis and genetic counseling", AM J MED G, 101(1), 2001, pp. 46-49
7. Colome, C; Ferrer, I; Artuch, R; Vilaseca, MA; Pineda, M; Briones, P
   Personal experience with the application of carbohydrate-deficient transferrin (CDT) assays to the detection of congenital disorders of glycosylation
   CLINICAL CHEMISTRY AND LABORATORY MEDICINE
   
   C. Colome et al., "Personal experience with the application of carbohydrate-deficient transferrin (CDT) assays to the detection of congenital disorders of glycosylation", CLIN CH L M, 38(10), 2000, pp. 965-969
8. Matthijs, G; Schollen, E; Bjursell, C; Erlandson, A; Freeze, H; Imtiaz, F; Kjaergaard, S; Martinsson, T; Schwartz, M; Seta, N; Vuillaumier-Barrot, S; Westphal, V; Winchester, B
   Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)
   HUMAN MUTATION
   
   G. Matthijs et al., "Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)", HUM MUTAT, 16(5), 2000, pp. 386-394
9. Rush, JS; Panneerselvam, K; Waechter, CJ; Freeze, HH
   Mannose supplementation corrects GDP-mannose deficiency in cultured fibroblasts from some patients with Congenital Disorders of Glycosylation (CDG)
   GLYCOBIOLOGY
   
   J.S. Rush et al., "Mannose supplementation corrects GDP-mannose deficiency in cultured fibroblasts from some patients with Congenital Disorders of Glycosylation (CDG)", GLYCOBIOLOG, 10(8), 2000, pp. 829-835