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La ricerca find articoli where soggetti phrase all words 'CDG SYNDROME' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 22 riferimenti
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    1. Jaeken, J; Matthijs, G
      Congenital disorders of glycosylation

      ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
    2. 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
    3. Aebi, M; Hennet, T
      Congenital disorders of glycosylation: genetic model systems lead the way

      TRENDS IN CELL BIOLOGY
    4. 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
    5. 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
    6. 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
    7. 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
    8. 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
    9. 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
    10. Gordon, N
      Carbohydrate-deficient glycoprotein syndromes

      POSTGRADUATE MEDICAL JOURNAL
    11. 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
    12. Patterson, MC
      Screening for "prelysosomal disorders": Carbohydrate-deficient glycoprotein syndromes

      JOURNAL OF CHILD NEUROLOGY
    13. 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
    14. 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
    15. Krotkiewska, B; Zwierz, K; Krotkiewski, H
      The carbohydrate moiety of human glycophorin in CDG syndrome

      ACTA BIOCHIMICA POLONICA
    16. 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
    17. 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
    18. PANNEERSELVAM K; FREEZE HH
      MANNOSE CORRECTS ALTERED N-GLYCOSYLATION IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME FIBROBLASTS

      The Journal of clinical investigation
    19. 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
    20. KRISTIANSSON B; STIBLER H; WIDE L
      GONADAL-FUNCTION AND GLYCOPROTEIN HORMONES IN THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN (CDG) SYNDROME

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

      Neuropediatrics
    22. 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


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/08/20 alle ore 22:33:46