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La ricerca find articoli where soggetti phrase all words 'phosphomannose isomerase deficiency' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 35 riferimenti
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    1. Zdebska, E; Musielak, M; Jaeken, J; Koscielak, J
      Band 3 glycoprotein and glycophorin A from erythrocytes of children with congenital disorder of glycosylation type-la are underglycosylated

      PROTEOMICS
    2. Jaeken, J; Matthijs, G
      Congenital disorders of glycosylation

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

      BIOLOGICAL CHEMISTRY
    4. Schachter, H
      Congenital disorders involving defective N-glycosylation of proteins

      CELLULAR AND MOLECULAR LIFE SCIENCES
    5. 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
    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. Aebi, M; Hennet, T
      Congenital disorders of glycosylation: genetic model systems lead the way

      TRENDS IN CELL BIOLOGY
    8. 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
    9. Freeze, HH
      Congenital disorders of glycosylation and the pediatric liver

      SEMINARS IN LIVER DISEASE
    10. 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
    11. Schenk, B; Imbach, T; Frank, CG; Grubenmann, CE; Raymond, GV; Hurvitz, H; Raas-Rotschild, A; Luder, AS; Jaeken, J; Berger, EG; Matthijs, G; Hennet, T; Aebi, M
      MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If

      JOURNAL OF CLINICAL INVESTIGATION
    12. Mention, K; Michaud, L; Dobbelaere, D; Guimber, D; Gottrand, F; Turck, D
      Neonatal severe intractable diarrhoea as the presenting manifestation of an unclassified congenital disorder of glycosylation (CDG-x)

      ARCHIVES OF DISEASE IN CHILDHOOD
    13. 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
    14. Westphal, V; Srikrishna, G; Freeze, HH
      Congenital disorders of glycosylation: Have you encountered them?

      GENETICS IN MEDICINE
    15. 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
    16. Takahashi, T; Honda, R; Nishikawa, Y
      Cloning of the human cDNA which can complement the defect of the yeast mannosyltransferase I-deficient mutant alg 1

      GLYCOBIOLOGY
    17. 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
    18. 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
    19. Grunewald, S; Imbach, T; Huijben, K; Rubio-Gozalbo, ME; Verrips, A; de Klerk, JBC; Stroink, H; Andel, JFD; Van Hove, JLK; Wendel, U; Matthijs, G; Hennet, T; Jaeken, J; Wevers, RA
      Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis

      ANNALS OF NEUROLOGY
    20. Imbach, T; Grunewald, S; Schenk, B; Burda, P; Schollen, E; Wevers, RA; Jaeken, J; de Klerk, JBC; Berger, EG; Matthijs, G; Aebi, M; Hennet, T
      Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic

      HUMAN GENETICS
    21. 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
    22. 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
    23. Gordon, N
      Carbohydrate-deficient glycoprotein syndromes

      POSTGRADUATE MEDICAL JOURNAL
    24. van Ommen, CH; Peters, M; Barth, PG; Vreken, P; Wanders, RJA; Jaeken, J
      Carbohydrate-deficient glycoprotein syndrome type 1a: A variant phenotype with borderline cognitive dysfunction, cerebellar hypoplasia, and coagulation disturbances

      JOURNAL OF PEDIATRICS
    25. Kim, S; Westphal, V; Srikrishna, G; Mehta, DP; Peterson, S; Filiano, J; Karnes, PS; Patterson, MC; Freeze, HH
      Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)

      JOURNAL OF CLINICAL INVESTIGATION
    26. Imbach, T; Schenk, B; Schollen, E; Burda, P; Stutz, A; Grunewald, S; Bailie, NM; King, MD; Jaeken, J; Matthijs, G; Berger, EG; Aebi, M; Hennet, T
      Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie

      JOURNAL OF CLINICAL INVESTIGATION
    27. Westphal, V; Murch, S; Kim, S; Srikrishna, G; Winchester, B; Day, R; Freeze, HH
      Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation

      AMERICAN JOURNAL OF PATHOLOGY
    28. Schachter, H; Jaeken, J
      Carbohydrate-deficient glycoprotein syndrome type II

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    29. 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
    30. Patterson, MC
      Screening for "prelysosomal disorders": Carbohydrate-deficient glycoprotein syndromes

      JOURNAL OF CHILD NEUROLOGY
    31. Schwarzenberg, SJ
      Congenital hepatic fibrosis - Is it really a matter of "a spoonful of sugar?" - Comments

      HEPATOLOGY
    32. Schwarzenberg, SJ
      Congenital hepatic fibrosis - Is it really a matter of "a spoonful of sugar?" - Comments

      HEPATOLOGY
    33. Babovic-Vuksanovic, D; Patterson, MC; Schwenk, WF; O'Brien, JF; Vockley, J; Freeze, HH; Mehta, DP; Michels, VV
      Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome

      JOURNAL OF PEDIATRICS
    34. Koscielak, J
      Carbohydrate-deficient glycoprotein syndromes

      ACTA BIOCHIMICA POLONICA
    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


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Documento generato il 24/10/20 alle ore 14:21:37