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    1. Harvey, DJ
      Identification of protein-bound carbohydrates by mass spectrometry

      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; 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
    7. 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
    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. Ferens-Sieczkowska, M; Olczak, M
      Carbohydrate structures of haptoglobin in sera of healthy people and a patient with congenital disorder of glycosylation

      ZEITSCHRIFT FUR NATURFORSCHUNG C-A JOURNAL OF BIOSCIENCES
    11. Pearl, PL; Krasnewich, D
      Neurologic course of congenital disorders of glycosylation

      JOURNAL OF CHILD NEUROLOGY
    12. Meissner, T; Rabl, W; Mohnike, K; Scholl, S; Santer, R; Mayatepek, E
      Hyperinsulinism in syndromal disorders

      ACTA PAEDIATRICA
    13. Stanchi, F; Bertocco, E; Toppo, S; Dioguardi, R; Simionati, B; Cannata, N; Zimbello, R; Lanfranchi, G; Valle, G
      Characterization of 16 novel human genes showing high similarity to yeast sequences

      YEAST
    14. Erlandson, A; Bjursell, C; Stibler, H; Kristiansson, B; Wahlstrom, J; Martinsson, T
      Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations

      HUMAN GENETICS
    15. Davis, JA; Freeze, HH
      Studies of mannose metabolism and effects of long-term mannose ingestion in the mouse

      BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS
    16. Freeze, HH
      Congenital disorders of glycosylation and the pediatric liver

      SEMINARS IN LIVER DISEASE
    17. Mills, P; Mills, K; Clayton, P; Johnson, A; Whitehouse, D; Winchester, B
      Congenital disorders of glycosylation type I leads to altered processing of N-linked glycans, as well as underglycosylation

      BIOCHEMICAL JOURNAL
    18. 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
    19. Sillanaukee, P; Strid, N; Allen, JP; Litten, RZ
      Possible reasons why heavy drinking increases carbohydrate-deficient transferrin

      ALCOHOLISM-CLINICAL AND EXPERIMENTAL RESEARCH
    20. Van Geet, C; Jaeken, J; Freson, K; Lenaerts, T; Arnout, J; Vermylen, J; Hoylaerts, MF
      Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications

      JOURNAL OF INHERITED METABOLIC DISEASE
    21. Leonard, J; Grunewald, S; Clayton, P
      Diversity of congenital disorders of glycosylation

      LANCET
    22. Nissenkorn, A; Michelson, M; Ben-Zeev, B; Lerman-Sagie, T
      Inborn errors of metabolism - A cause of abnormal brain development

      NEUROLOGY
    23. 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
    24. 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
    25. Lacey, JM; Bergen, HR; Magera, MJ; Naylor, S; O'Brien, JF
      Rapid determination of transferrin isoforms by immunoaffinity liquid chromatography and electrospray mass spectrometry

      CLINICAL CHEMISTRY
    26. Arndt, T
      Carbohydrate-deficient transferrin as a marker of chronic alcohol abuse: Acritical review of preanalysis, analysis, and interpretation

      CLINICAL CHEMISTRY
    27. Hendriksz, CJ; McClean, P; Henderson, MJ; Keir, DG; Worthington, VC; Imtiaz, F; Schollen, E; Matthijs, G; Winchester, BG
      Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose

      ARCHIVES OF DISEASE IN CHILDHOOD
    28. 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
    29. 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
    30. Bergen, HR; Lacey, JM; O'Brien, JF; Naylor, S
      Online single-step analysis of blood proteins: The transferrin story

      ANALYTICAL BIOCHEMISTRY
    31. Grunewald, S; Schollen, E; Van Schaftingen, E; Jaeken, J; Matthijs, G
      High residual activity of PMM2 in patients' fibroblasts: Possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency)

      AMERICAN JOURNAL OF HUMAN GENETICS
    32. 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
    33. Westphal, V; Srikrishna, G; Freeze, HH
      Congenital disorders of glycosylation: Have you encountered them?

      GENETICS IN MEDICINE
    34. 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
    35. 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
    36. 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
    37. Schollen, E; Kjaergaard, S; Legius, E; Schwartz, M; Matthijs, G
      Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation inCDG-Ia (congenital disorders of glycosylation type Ia)

      EUROPEAN JOURNAL OF HUMAN GENETICS
    38. 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
    39. 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
    40. 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
    41. 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
    42. Pavlakis, SG; Kingsley, PB; Bialer, MG
      Stroke in children: Genetic and metabolic issues

      JOURNAL OF CHILD NEUROLOGY
    43. 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
    44. 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
    45. Schachter, H
      The joys of HexNAc. The synthesis and function of N-and O-glycan branches

      GLYCOCONJUGATE JOURNAL
    46. Grunewald, S; Matthijs, G
      Congenital Disorders of Glycosylation (CDG): A rapidly expanding group of neurometabolic disorders

      NEUROPEDIATRICS
    47. Hanefeld, F; Korner, C; Holzbach-Eberle, U; von Figura, K
      Congenital disorder of glycosylation-Ic: Case report and genetic defect

      NEUROPEDIATRICS
    48. Leonard, JV; Morris, AAM
      Inborn errors of metabolism around time of birth

      LANCET
    49. 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
    50. Cormier-Daire, V; Amiel, J; Vuillaumier-Barrot, S; Tan, J; Durand, G; Munnich, A; Le Merrer, M; Seta, N
      Congenital disorders of glycosylation IIa cause growth retardation, mentalretardation, and facial dysmorphism

      JOURNAL OF MEDICAL GENETICS
    51. 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
    52. 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
    53. Durand, G; Seta, N
      Protein glycosylation and diseases: Blood and urinary oligosaccharides as markers for diagnosis and therapeutic monitoring

      CLINICAL CHEMISTRY
    54. Assmann, B; Hackler, R; Peters, V; Schaefer, JR; Hoffmann, GF
      Increased carbohydrate-deficient transferrin concentration and abnormal protein glycosylation of unknown etiology in a patient with achondroplasia

      CLINICAL CHEMISTRY
    55. 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
    56. De Praeter, CM; Gerwig, GJ; Bause, E; Nuytinck, LK; Vliegenthart, JFG; Breuer, W; Kamerling, JP; Espeel, MF; Martin, JJR; De Paepe, AM; Chan, NWC; Dacremont, GA; Van Coster, RN
      A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency

      AMERICAN JOURNAL OF HUMAN GENETICS
    57. Mizugishi, K; Kuwajima, K; Obata, K; Kondo, I
      An AciI polymorphism in the 3 ' untranslated region of the human phosphomannomutase 2 (PMM2) gene

      JOURNAL OF HUMAN GENETICS
    58. Reuter, G; Gabius, HJ
      Eukaryotic glycosylation: whim of nature or multipurpose tool?

      CELLULAR AND MOLECULAR LIFE SCIENCES
    59. Matthijs, G; Schollen, E; Heykants, L; Grunewald, S
      Phosphomannomutase deficiency: The molecular basis of the classical Jaekensyndrome (CDGS type Ia)

      MOLECULAR GENETICS AND METABOLISM
    60. Kjaergaard, S; Skovby, F; Schwartz, M
      Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E-coli

      EUROPEAN JOURNAL OF HUMAN GENETICS
    61. 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
    62. Freeze, HH; Aebi, M
      Molecular basis of carbohydrate-deficient glycoprotein syndromes type I with normal phosphomannomutase activity

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    63. 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
    64. 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
    65. OREAR JL; SCOCCA JR; WALKER BK; KAIDEN A; KRAG SS
      CHINESE-HAMSTER OVARY CELLS WITH REDUCED HEXOKINASE-ACTIVITY MAINTAINNORMAL GDP-MANNOSE LEVELS

      Journal of cellular biochemistry
    66. 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
    67. 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
    68. Young, G; Driscoll, MC
      Coagulation abnormalities in the carbohydrate-deficient glycoprotein syndrome: Case report and review of the literature

      AMERICAN JOURNAL OF HEMATOLOGY
    69. Bowling, FG; Hurrion, E; Bryan, J; Oats, J; McGill, JJ
      Carbohydrate-deficient glycoprotein syndrome in a newborn with an unbalanced chromosomal translocation

      EUROPEAN JOURNAL OF PEDIATRICS
    70. Baethmann, M; Voit, T
      New knowledge on neurometabolic diseases in childhood

      AKTUELLE NEUROLOGIE
    71. 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
    72. Ferens-Sieczkowska, M; Midro, A; Mierzejewska-Iwanowska, B; Zwierz, K; Katnik-Prastowska, I
      Haptoglobin glycoforms in a case of carbohydrate-deficient glycoprotein syndrome

      GLYCOCONJUGATE JOURNAL
    73. Schwarzenberg, SJ
      Congenital hepatic fibrosis - Is it really a matter of "a spoonful of sugar?" - Comments

      HEPATOLOGY
    74. Dennis, JW; Granovsky, M; Warren, CE
      Protein glycosylation in development and disease

      BIOESSAYS
    75. Pirard, M; Achouri, Y; Collet, JF; Schollen, E; Matthijs, G; Van Schaftingen, E
      Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes

      BIOCHEMICAL JOURNAL
    76. 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
    77. de Koning, TJ; Dorland, L; Henegouwen, GPV
      Phosphomannose isomerase deficiency as a cause of congenital hepatic fibrosis and protein-losing enteropathy

      JOURNAL OF HEPATOLOGY
    78. Doerrler, WT; Lehrman, MA
      Regulation of the dolichol pathway in human fibroblasts by the endoplasmicreticulum unfolded protein response

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    79. Chen, SH; Zhou, SH; Sarkar, M; Spence, AM; Schachter, H
      Expression of three Caenorhabditis elegans N-acetylglucosaminyltransferaseI genes during development

      JOURNAL OF BIOLOGICAL CHEMISTRY
    80. Yoshikawa, K; Umetsu, K; Shinzawa, H; Yuasa, I; Maruyama, K; Ohkura, T; Yamashita, K; Suzuki, T
      Determination of carbohydrate-deficient transferrin separated by lectin affinity chromatography for detecting chronic alcohol abuse

      FEBS LETTERS
    81. Freeze, HH
      Human glycosylation disorders and sugar supplement therapy

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    82. Xu, Y
      Capillary electrophoresis

      ANALYTICAL CHEMISTRY
    83. Koscielak, J
      Carbohydrate-deficient glycoprotein syndromes

      ACTA BIOCHIMICA POLONICA
    84. Merry, T
      Current techniques in protein glycosylation analysis - A guide to their application

      ACTA BIOCHIMICA POLONICA
    85. Kruszewska, J; Janik, A; Lenart, U; Palamarczyk, G
      Glycosylation defects corrected by the changes in GDPmannose level

      ACTA BIOCHIMICA POLONICA
    86. Krotkiewska, B; Zwierz, K; Krotkiewski, H
      The carbohydrate moiety of human glycophorin in CDG syndrome

      ACTA BIOCHIMICA POLONICA
    87. MATTHIJS G; SCHOLLEN E; CASSIMAN JJ; CORMIERDAIRE V; JAEKEN J; VANSCHAFTINGEN E
      PRENATAL-DIAGNOSIS IN CDG1 FAMILIES - BEWARE OF HETEROGENEITY

      European journal of human genetics
    88. 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
    89. CHARLWOOD J; CLAYTON P; KEIR G; MIAN N; WINCHESTER B
      DEFECTIVE GALACTOSYLATION OF SERUM TRANSFERRIN IN GALACTOSEMIA

      Glycobiology
    90. 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
    91. 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
    92. ICHISAKA S; OHNO K; YUASA I; NANBA E; SAKURABA H; SUZUKI Y
      INCREASED EXPRESSION OF BETA-HEXOSAMINIDASE ALPHA-CHAIN IN CULTURED SKIN FIBROBLASTS FROM PATIENTS WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEINSYNDROME TYPE-I

      Brain & development
    93. 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
    94. PETER J; UNVERZAGT C; ENGEL WD; RENAUER D; SEIDEL C; HOSEL W
      IDENTIFICATION OF CARBOHYDRATE-DEFICIENT TRANSFERRIN FORMS BY MALDI-TOF MASS-SPECTROMETRY AND LECTIN ELISA

      Biochimica et biophysica acta (G). General subjects
    95. CODDEVILLE B; CARCHON H; JAEKEN J; BRIAND G; SPIK G
      DETERMINATION OF GLYCAN STRUCTURES AND MOLECULAR MASSES OF THE GLYCOVARIANTS OF SERUM TRANSFERRIN FROM A PATIENT WITH CARBOHYDRATE-DEFICIENT SYNDROME TYPE-II

      Glycoconjugate journal
    96. KRISTIANSSON B; BORULF S; CONRADI N; ERLANSONALBERTSSON C; RYD W; STIBLER H
      INTESTINAL, PANCREATIC AND HEPATIC INVOLVEMENT IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I

      Journal of pediatric gastroenterology and nutrition
    97. 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
    98. ARTIGAS J; CARDO E; PINEDA M; NOSAS R; JAEKEN J
      PHOSPHOMANNOMUTASE DEFICIENCY AND NORMAL PUBERTAL DEVELOPMENT

      Journal of inherited metabolic disease
    99. STEINLIN M; BLASER S; BOLTSHAUSER E
      CEREBELLAR INVOLVEMENT IN METABOLIC DISORDERS - A PATTERN-RECOGNITIONAPPROACH

      Neuroradiology
    100. FREEZE HH
      DISORDERS IN PROTEIN GLYCOSYLATION AND POTENTIAL THERAPY - TIP OF AN ICEBERG

      The Journal of pediatrics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/10/20 alle ore 00:10:56