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La ricerca find articoli where soggetti phrase all words 'congenital disorders of glycosylation' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 9 riferimenti
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    1. Schachter, H
      Congenital disorders involving defective N-glycosylation of proteins

      CELLULAR AND MOLECULAR LIFE SCIENCES
    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
    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
    4. Heykants, L; Schollen, E; Grunewald, S; Matthijs, G
      Identification and localization of two mouse phosphomannomutase genes, Pmm1 and Pmm2

      GENE
    5. Freeze, HH
      Congenital disorders of glycosylation and the pediatric liver

      SEMINARS IN LIVER DISEASE
    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
    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
    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
    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


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 18/01/21 alle ore 19:05:26