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La ricerca find articoli where soggetti phrase all words 'PHOSPHOMANNOMUTASE DEFICIENCY' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 22 riferimenti
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    1. 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
    2. 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
    3. Kjaergaard, S; Schwartz, M; Skovby, F
      Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrumof the R141H/F119L genotype

      ARCHIVES OF DISEASE IN CHILDHOOD
    4. Dupre, T; Barnier, A; de Lonlay, P; Cormier-Daire, V; Durand, G; Codogno, P; Seta, N
      Defect in N-glycosylation of proteins is tissue-dependent in congenital disorders of glycosylation Ia

      GLYCOBIOLOGY
    5. de Lonlay, P; Cormier-Daire, V; Vuillaumier-Barrot, S; Cuer, M; Durand, G; Munnich, A; Saudubray, JM; Seta, N
      "Carbohydrate-deficient glycoprotein" syndrome.

      ARCHIVES DE PEDIATRIE
    6. Carchon, H; Van Schaftingen, E; Matthijs, G; Jaeken, J
      Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency)

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    7. Grunewald, S; Huyben, K; de Jong, JGN; Smeitink, JAM; Rubio, E; Boers, GHJ; Conradt, HS; Wendel, U; Wevers, RA
      beta-trace protein in human cerebrospinal fluid: a diagnostic marker for N-glycosylation defects in brain

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    8. Dupre, T; Ogier-Denis, E; Moore, SEH; Cormier-Daire, V; Dehoux, M; Durand, G; Seta, N; Codogno, P
      Alteration of mannose transport in fibroblasts from type I carbohydrate deficient glycoprotein syndrome patients

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    9. Barone, R; Pavone, L; Fiumara, A; Bianchini, R; Jaeken, J
      Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency)

      BRAIN & DEVELOPMENT
    10. Olczak, T; Olczak, M; Kubicz, A
      The sugar moiety of Tamm-Horsfall protein is affected by the carbohydrate-deficient glycoprotein type I syndrome. A case study

      GLYCOCONJUGATE JOURNAL
    11. Korner, C; Knauer, R; Stephani, U; Marquardt, T; Lehle, L; von Figura, K
      Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man : Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase

      EMBO JOURNAL
    12. Lubke, T; Marquardt, T; von Figura, K; Korner, C
      A new type of carbohydrate-deficient glycoprotein syndrome due to a decreased import of GDP-fucose into the golgi

      JOURNAL OF BIOLOGICAL CHEMISTRY
    13. Chen, SH; Zhou, SH; Sarkar, M; Spence, AM; Schachter, H
      Expression of three Caenorhabditis elegans N-acetylglucosaminyltransferaseI genes during development

      JOURNAL OF BIOLOGICAL CHEMISTRY
    14. KJAERGAARD S; SKOVBY F; SCHWARTZ M
      ABSENCE OF HOMOZYGOSITY FOR PREDOMINANT MUTATIONS IN PMM2 IN DANISH PATIENTS WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-1

      European journal of human genetics
    15. KORNER C; LEHLE L; VONFIGURA K
      ABNORMAL SYNTHESIS OF MANNOSE 1-PHOSPHATE DERIVED CARBOHYDRATES IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I FIBROBLASTS WITH PHOSPHOMANNOMUTASE DEFICIENCY

      Glycobiology
    16. BERGMANN M; GROSS HJ; ABDELATTY F; MOLLER P; JAEKEN J; SCHWARTZALBIEZ R
      ABNORMAL SURFACE EXPRESSION OF SIALOGLYCANS ON B-LYMPHOCYTE CELL-LINES FROM PATIENTS WITH CARBOHYDRATE-DEFICIENT-GLYCOPROTEIN-SYNDROME-I-A (CDGS-I-A)

      Glycobiology
    17. KJAERGAARD S; KRISTIANSSON B; STIBLER H; FREEZE HH; SCHWARTZ M; MARTINSSON T; SKOVBY F
      FAILURE OF SHORT-TERM MANNOSE THERAPY OF PATIENTS WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE 1A

      Acta paediatrica
    18. GAREL C; BAUMANN C; BESNARD M; OGIER H; JAEKEN J; HASSAN M
      CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I - A NEW CAUSE OF DYSOSTOSIS MULTIPLEX

      Skeletal radiology
    19. CHARLWOOD J; CLAYTON P; KEIR G; MIAN N; YOUNG E; WINCHESTER B
      PRENATAL-DIAGNOSIS OF THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE 1A (CDG1A) BY A COMBINATION OF ENZYMOLOGY AND GENETIC-LINKAGE ANALYSIS AFTER AMNIOCENTESIS OR CHORIONIC VILLUS SAMPLING

      Prenatal diagnosis
    20. FREEZE HH
      DISORDERS IN PROTEIN GLYCOSYLATION AND POTENTIAL THERAPY - TIP OF AN ICEBERG

      The Journal of pediatrics
    21. POHL S; HOFFMANN A; RUDIGER A; NIMTZ M; JAEKEN J; CONRADT HS
      HYPOGLYCOSYLATION OF A BRAIN GLYCOPROTEIN (BETA-TRACE PROTEIN) IN CDGSYNDROMES DUE TO PHOSPHOMANNOMUTASE DEFICIENCY AND N-ACETYLGLUCOSAMINYL-TRANSFERASE-II DEFICIENCY

      Glycobiology
    22. MAYATEPEK E; SCHRODER M; KOHLMULLER D; BIEGER WP; NUTZENADEL W
      CONTINUOUS MANNOSE INFUSION IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I

      Acta paediatrica


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 21/01/21 alle ore 06:45:40