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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. 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
    20. Leonard, J; Grunewald, S; Clayton, P
      Diversity of congenital disorders of glycosylation

      LANCET
    21. 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
    22. 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
    23. 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
    24. 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
    25. 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
    26. 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
    27. Bergen, HR; Lacey, JM; O'Brien, JF; Naylor, S
      Online single-step analysis of blood proteins: The transferrin story

      ANALYTICAL BIOCHEMISTRY
    28. Westphal, V; Srikrishna, G; Freeze, HH
      Congenital disorders of glycosylation: Have you encountered them?

      GENETICS IN MEDICINE
    29. 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
    30. 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
    31. 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
    32. 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
    33. 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
    34. 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
    35. 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
    36. 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
    37. Schachter, H
      The joys of HexNAc. The synthesis and function of N-and O-glycan branches

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

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

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

      LANCET
    41. 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
    42. 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
    43. Durand, G; Seta, N
      Protein glycosylation and diseases: Blood and urinary oligosaccharides as markers for diagnosis and therapeutic monitoring

      CLINICAL CHEMISTRY
    44. 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
    45. 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
    46. Reuter, G; Gabius, HJ
      Eukaryotic glycosylation: whim of nature or multipurpose tool?

      CELLULAR AND MOLECULAR LIFE SCIENCES
    47. 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
    48. 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
    49. 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
    50. 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
    51. 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
    52. 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
    53. 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
    54. Young, G; Driscoll, MC
      Coagulation abnormalities in the carbohydrate-deficient glycoprotein syndrome: Case report and review of the literature

      AMERICAN JOURNAL OF HEMATOLOGY
    55. 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
    56. Baethmann, M; Voit, T
      New knowledge on neurometabolic diseases in childhood

      AKTUELLE NEUROLOGIE
    57. 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
    58. 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
    59. Dennis, JW; Granovsky, M; Warren, CE
      Protein glycosylation in development and disease

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

      BIOCHEMICAL JOURNAL
    61. 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
    62. 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
    63. Chen, SH; Zhou, SH; Sarkar, M; Spence, AM; Schachter, H
      Expression of three Caenorhabditis elegans N-acetylglucosaminyltransferaseI genes during development

      JOURNAL OF BIOLOGICAL CHEMISTRY
    64. 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
    65. Freeze, HH
      Human glycosylation disorders and sugar supplement therapy

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

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

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

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

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

      ACTA BIOCHIMICA POLONICA
    71. 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
    72. 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
    73. CHARLWOOD J; CLAYTON P; KEIR G; MIAN N; WINCHESTER B
      DEFECTIVE GALACTOSYLATION OF SERUM TRANSFERRIN IN GALACTOSEMIA

      Glycobiology
    74. 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
    75. 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
    76. 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
    77. 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
    78. 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
    79. 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
    80. STEINLIN M; BLASER S; BOLTSHAUSER E
      CEREBELLAR INVOLVEMENT IN METABOLIC DISORDERS - A PATTERN-RECOGNITIONAPPROACH

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

      The Journal of pediatrics
    82. KRAG SS
      THE IMPORTANCE OF BEING DOLICHOL

      Biochemical and biophysical research communications
    83. CHARLWOOD J; BIRRELL H; TOLSON D; CAMILLERI P
      2-DIMENSIONAL CHROMATOGRAPHY IN THE ANALYSIS OF COMPLEX GLYCANS FROM TRANSFERRIN

      Analytical chemistry (Washington)
    84. WORTHINGTON S; ARBUCKLE S; NELSON P; CAREY W; LIPSON A; FAGAN E
      CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I - A CAUSE OF CEREBELLAR VERMIS HYPOPLASIA

      Journal of paediatrics and child health
    85. BJORKLUND JEM; STIBLER H; KRISTIANSSON B; JOHANSSON SGO; MAGNUSSON CGM
      IMMUNOGLOBULIN LEVELS IN PATIENTS WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I

      International archives of allergy and immunology
    86. HANSEN SH; FRANK SR; CASANOVA JE
      CLONING AND CHARACTERIZATION OF HUMAN PHOSPHOMANNOMUTASE, A MAMMALIANHOMOLOG OF YEAST SEC53

      Glycobiology
    87. WADA Y; SAKAMOTO M
      ISOLATION OF THE HUMAN PHOSPHOMANNOMUTASE GENE (PMM1) AND ASSIGNMENT TO CHROMOSOME 22Q13

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

      Acta paediatrica
    89. COHEN LHF; VAMOS E; HEINRICHS C; TOPPET M; COURTENS W; KUMPS A; MARDENS Y; CARLSSON B; GRILLNER L; LARSSON A
      GROWTH FAILURE, ENCEPHALOPATHY, AND ENDOCRINE DYSFUNCTIONS IN 2 SIBLINGS, ONE WITH 5-OXOPROLINASE DEFICIENCY

      European journal of pediatrics
    90. LEEB T; KRIEGESMANN B; BAUMGARTNER BG; KLETT C; YERLE M; HAMEISTER H; BRENIG B
      MOLECULAR-CLONING OF THE PORCINE BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE-II GENE AND ASSIGNMENT TO CHROMOSOME 1Q23-Q27

      Biochimica et biophysica acta (G). General subjects
    91. HOEFKENS P; HUIJSKESHEINS MIE; DEJEUJASPARS CMH; VANNOORT WL; VANEIJK HG
      INFLUENCE OF TRANSFERRIN GLYCANS ON RECEPTOR-BINDING AND IRON-DONATION

      Glycoconjugate journal
    92. JAEKEN J; MATTHIJS G; BARONE R; CARCHON H
      CARBOHYDRATE-DEFICIENT GLYCOPROTEIN (CDG) SYNDROME TYPE-I

      Journal of Medical Genetics
    93. PANNEERSELVAM K; ETCHISON JR; FREEZE HH
      HUMAN FIBROBLASTS PREFER MANNOSE OVER GLUCOSE AS A SOURCE OF MANNOSE FOR N-GLYCOSYLATION - EVIDENCE FOR THE FUNCTIONAL IMPORTANCE OF TRANSPORTED MANNOSE

      The Journal of biological chemistry
    94. FUKUSHIMA K; OHKURA T; YAMASHITA K
      SYNTHESIS OF LIPID-LINKED OLIGOSACCHARIDES IS DEPENDENT ON THE CELL-CYCLE IN RAT 3Y1 CELLS

      Journal of Biochemistry
    95. ETCHISON JR; FREEZE HH
      ENZYMATIC ASSAY OF D-MANNOSE IN SERUM

      Clinical chemistry
    96. RAMAEKERS VT; HEIMANN G; REUL J; THRON A; JAEKEN J
      GENETIC-DISORDERS AND CEREBELLAR STRUCTURAL ABNORMALITIES IN CHILDHOOD

      Brain
    97. PAVONE L; FIUMARA A; BARONE R; RIZZO R; BUTTITTA P; DOBYNS WB; JAEKEN J
      OLIVOPONTOCEREBELLAR ATROPHY LEADING TO RECOGNITION OF CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I

      Journal of neurology
    98. NAKANISHI T; SHIMIZU A; OKAMOTO N; INGENDOH A; KANAI M
      ANALYSIS OF SERUM-PROTEIN PRECIPITATED WITH ANTISERUM BY MATRIX-ASSISTED LASER-DESORPTION IONIZATION TIME-OF-FLIGHT AND ELECTROSPRAY-IONIZATION MASS-SPECTROMETRY AS A CLINICAL LABORATORY TEST

      Journal of the American Society for Mass Spectrometry
    99. BAWLE EV; KUPSKY WJ; DAMATO CJ; BECKER CJ; HICKS S
      FAMILIAL INFANTILE OLIVOPONTOCEREBELLAR ATROPHY

      Pediatric neurology
    100. KRISTIANSSON B; STIBLER H; WIDE L
      GONADAL-FUNCTION AND GLYCOPROTEIN HORMONES IN THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN (CDG) SYNDROME

      Acta paediatrica


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Documento generato il 04/08/20 alle ore 22:38:17