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La ricerca find articoli where soggetti phrase all words 'CDG' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 42 riferimenti
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    1. Jaeken, J; Matthijs, G
      Congenital disorders of glycosylation

      ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
    2. Vuillaumier-Barrot, S; Le Bizec, C; Durand, G; Seta, N
      The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic

      JOURNAL OF HUMAN GENETICS
    3. Marquardt, T; Freeze, H
      Congenital disorders of glycosylation: Glycosylation defects in man and biological models for their study

      BIOLOGICAL CHEMISTRY
    4. 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
    5. 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
    6. Westphal, V; Kjaergaard, S; Davis, JA; Peterson, SM; Skovby, F; Freeze, HH
      Genetic and metabolic analysis of the first adult with congenital disorderof glycosylation type Ib: Long-term outcome and effects of mannose supplementation

      MOLECULAR GENETICS AND METABOLISM
    7. Van Buggenhout, GJCM; Trijbels, JMF; Wevers, R; Trommelen, JCM; Hamel, BCJ; Brunner, HG; Fryns, JP
      Metabolic studies in older mentally retarded patients: Significance of metabolic testing and correlation with the clinical phenotype

      GENETIC COUNSELING
    8. Aebi, M; Hennet, T
      Congenital disorders of glycosylation: genetic model systems lead the way

      TRENDS IN CELL BIOLOGY
    9. de Vries, BBA; van't Hoff, WG; Surtees, RAH; Winter, RM
      Diagnostic dilemmas in four infants with nephrotic syndrome, microcephaly and severe developmental delay

      CLINICAL DYSMORPHOLOGY
    10. Ferrari, MC; Parini, R; Di Rocco, M; Radetti, G; Beck-Peccoz, P; Persani, L
      Lectin analyses of glycoprotein hormones in patients with congenital disorders of glycosylation

      EUROPEAN JOURNAL OF ENDOCRINOLOGY
    11. Gerardy-Schahn, R; Oelmann, S; Bakker, H
      Nucleotide sugar transporters: Biological and functional aspects

      BIOCHIMIE
    12. de Lonlay, P; Seta, N; Barrot, S; Chabrol, B; Drouin, V; Gabriel, BM; Journel, H; Kretz, M; Laurent, J; Le Merrer, M; Leroy, A; Pedespan, D; Sarda, P; Villeneuve, N; Schmitz, J; van Schaftingen, E; Matthijs, G; Jaeken, J; Korner, C; Munnich, A; Saudubray, JM; Cormier-Daire, V
      A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

      JOURNAL OF MEDICAL GENETICS
    13. Westphal, V; Schottstadt, C; Marquardt, T; Freeze, HH
      Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic

      MOLECULAR GENETICS AND METABOLISM
    14. 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
    15. Bjursell, C; Erlandson, A; Nordling, M; Nilsson, S; Wahlstrom, J; Stibler, H; Kristiansson, B; Martinsson, T
      PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families

      HUMAN MUTATION
    16. Schollen, E; Dorland, L; de Koning, TJ; Van Diggelen, OP; Huijmans, JGM; Marquardt, T; Babovic-Vuksanovic, D; Patterson, M; Imtiaz, F; Winchester, B; Adamowicz, M; Pronicka, E; Freeze, H; Matthijs, G
      Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)

      HUMAN MUTATION
    17. 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
    18. 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
    19. de Koning, TJ; Nikkels, PGJ; Dorland, L; Bekhof, J; De Schrijver, JEAR; van Hattum, J; van Diggelen, OP; Duran, M; Barger, R; Poll-The, BT
      Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency

      VIRCHOWS ARCHIV-AN INTERNATIONAL JOURNAL OF PATHOLOGY
    20. 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
    21. Hanefeld, F; Korner, C; Holzbach-Eberle, U; von Figura, K
      Congenital disorder of glycosylation-Ic: Case report and genetic defect

      NEUROPEDIATRICS
    22. Knopf, C; Rod, R; Jaeken, J; Berant, M; Van Schaftingen, E; Fryns, JP; Brill-Zamir, R; Gershoni-Baruch, R; Lischinsky, S; Mandel, H
      Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism

      JOURNAL OF INHERITED METABOLIC DISEASE
    23. Imtiaz, F; Worthington, V; Champion, M; Beesley, C; Charlwood, J; Clayton, P; Keir, G; Mian, N; Winchester, B
      Genotypes and phenotypes of patients in the UK with carbohydrate-deficientglycoprotein syndrome type 1

      JOURNAL OF INHERITED METABOLIC DISEASE
    24. Gordon, N
      Carbohydrate-deficient glycoprotein syndromes

      POSTGRADUATE MEDICAL JOURNAL
    25. Vuillaumier-Barrot, S; Hetet, G; Barnier, A; Dupre, T; Cuer, M; de Lonlay, P; Cormier-Daire, V; Durand, G; Grandchamp, B; Seta, N
      Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients

      JOURNAL OF MEDICAL GENETICS
    26. Beccari, T; Mancuso, F; Costanzi, E; Tassi, C; Barone, R; Fiumara, A; Orlacchio, A; Aisa, MC; Orlacchio, A
      beta-hexosaminidase, alpha-D-mannosidase, and beta-mannosidase expression in serum from patients with carbohydrate-deficient glycoprotein syndrome type I

      CLINICA CHIMICA ACTA
    27. 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
    28. Patterson, MC
      Screening for "prelysosomal disorders": Carbohydrate-deficient glycoprotein syndromes

      JOURNAL OF CHILD NEUROLOGY
    29. Mizugishi, K; Yamanaka, K; Kuwajima, K; Yuasa, I; Shigemoto, K; Kondo, I
      Missense mutations in the phosphomannomutase 2 gene of two Japanese siblings with carbohydrate-deficient glycoprotein syndrome type I

      BRAIN & DEVELOPMENT
    30. Ishida, N; Yoshioka, S; Chiba, Y; Takeuchi, M; Kawakita, M
      Molecular cloning and functional expression of the human Golgi UDP-N-acetylglucosamine transporter

      JOURNAL OF BIOCHEMISTRY
    31. Krotkiewska, B; Zwierz, K; Krotkiewski, H
      The carbohydrate moiety of human glycophorin in CDG syndrome

      ACTA BIOCHIMICA POLONICA
    32. Bjursell, C; Wahlstrom, J; Berg, K; Stibler, H; Kristiansson, B; Matthijs, G; Martinsson, T
      Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families

      EUROPEAN JOURNAL OF HUMAN GENETICS
    33. TIAN YB; CHENG Y
      SOLUTIONS OF CDG EQUATION AND MODIFIED CDG EQUATION

      Communications in Theoretical Physics
    34. NIEHUES R; HASILIK M; ALTON G; KORNER C; SCHIEBESUKUMAR M; KOCH HG; ZIMMER KP; WU RR; HARMS E; REITER K; VONFIGURA K; FREEZE HH; HARMS HK; MARQUARDT T
      CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE IB - PHOSPHOMANNOSEISOMERASE DEFICIENCY AND MANNOSE THERAPY

      The Journal of clinical investigation
    35. DEKONING TJ; DORLAND L; VANDIGGELEN OP; BOONMAN AMC; DEJONG GJ; VANNOORT WL; DESCHRYVER J; DURAN M; VANDENBERG IET; GERWIG GJ; BERGER R; POLLTHE BT
      A NOVEL DISORDER OF N-GLYCOSYLATION DUE TO PHOSPHOMANNOSE ISOMERASE DEFICIENCY

      Biochemical and biophysical research communications
    36. PANNEERSELVAM K; FREEZE HH
      MANNOSE CORRECTS ALTERED N-GLYCOSYLATION IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME FIBROBLASTS

      The Journal of clinical investigation
    37. SETA N; BARNIER A; HOCHEDEZ F; BESNARD MA; DURAND G
      DIAGNOSTIC-VALUE OF WESTERN BLOTTING IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME

      Clinica chimica acta
    38. HOLZBACH U; HANEFELD F; HELMS G; HANICKE W; FRAHM J
      LOCALIZED PROTON MAGNETIC-RESONANCE SPECTROSCOPY OF CEREBRAL ABNORMALITIES IN CHILDREN WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME

      Acta paediatrica
    39. KRISTIANSSON B; STIBLER H; WIDE L
      GONADAL-FUNCTION AND GLYCOPROTEIN HORMONES IN THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN (CDG) SYNDROME

      Acta paediatrica
    40. STIBLER H; STEPHANI U; KUTSCH U
      CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME - A 4TH SUBTYPE

      Neuropediatrics
    41. IIJIMA K; MURAKAMI F; NAKAMURA K; IKAWA S; YUASA I; MOTOSUMI H; OHNO K; TAKESHITA K
      HEMOSTATIC STUDIES IN PATIENTS WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME

      Thrombosis research
    42. HEYNE K; WEIDINGER S
      3 NEW BIOCHEMICAL MARKERS IN GLYCANOSIS C DG (CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME)

      Monatsschrift fur Kinderheilkunde


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 11/08/20 alle ore 14:59:11