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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. Freson, K; Hoylaerts, MF; Jaeken, J; Eyssen, M; Arnout, J; Vermylen, J; Van Geet, C
      Genetic variation of the extra-large stimulatory G protein alpha-subunit leads to Gs hyperfunction in platelets and is a risk factor for bleeding

      THROMBOSIS AND HAEMOSTASIS
    4. Hausler, MG; Jaeken, J; Monch, E; Ramaekers, VT
      Phenotypic heterogeneity and adverse effects of serine treatment in 3-phosphoglycerate dehydrogenase deficiency: Report on two siblings

      NEUROPEDIATRICS
    5. 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
    6. 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
    7. 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
    8. Van Dijk, W; Koeleman, C; Hof, BV; Poland, D; Jakobs, C; Jaeken, J
      Increased alpha 3-fucosylation of alpha 1-acid glycoprotein in patients with congenital disorder of glycosylation type IA (CDG-Ia)

      FEBS LETTERS
    9. Carchon, HA; Jaeken, J
      Determination of D-mannose in serum by capillary electrophoresis

      CLINICAL CHEMISTRY
    10. 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
    11. Blau, N; Scherer-Oppliger, T; Baumer, A; Riegel, M; Matasovic, A; Schinzel, A; Jaeken, J; Thony, B
      Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS

      HUMAN MUTATION
    12. Purroy, J; Bisceglia, L; Jaeken, J; Gasparini, P; Palacin, M; Nunes, V
      Detection of two novel large deletions in SLC3A1 by semi-quantitative fluorescent multiplex PCR

      HUMAN MUTATION
    13. Aebi, M; Helenius, A; Schenk, B; Barone, R; Fiumara, A; Berger, EG; Hennet, T; Imbach, T; Stutz, A; Bjursell, C; Uller, A; Wahlstrom, JG; Briones, P; Cardo, E; Clayton, P; Winchester, B; Cormier-Daire, V; de Lonlay, P; Cuer, M; Dupre, T; Seta, N; de Koning, T; Dorland, L; de Loos, F; Kupers, L; Fabritz, L; Hasilik, M; Marquardt, T; Niehues, R; Freeze, H; Grunewald, S; Heykants, L; Jaeken, J; Matthijs, G; Schollen, E; Keir, G; Kjaergaard, S; Schwartz, M; Skovby, F; Klein, A; Roussel, P; Korner, C; Lubke, T; Thiel, C; von Figura, K; Koscielak, J; Krasnewich, D; Lehle, L; Peters, V; Raab, M; Saether, O; Schachter, H; Van Schaftingen, E; Verbert, A; Vilaseca, A; Wevers, R; Yamashita, K
      Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG

      GLYCOBIOLOGY
    14. 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
    15. 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
    16. Corbeel, L; Van Lierde, S; Jaeken, J
      Long-term follow-up of portacaval shunt in glycogen storage disease type 1B

      EUROPEAN JOURNAL OF PEDIATRICS
    17. de Koning, TJ; Jaeken, J; Pineda, M; Van Maldergem, L; Poll-The, BT; van der Knaap, MS
      Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency

      NEUROPEDIATRICS
    18. Abeling, NGGM; Brautigam, C; Hoffmann, GF; Barth, PG; Wevers, RA; Jaeken, J; Fiumara, A; Knust, A; van Gennip, AH
      Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiency

      JOURNAL OF INHERITED METABOLIC DISEASE
    19. Fletcher, JM; Matthijs, G; Jaeken, J; Van Schaftingen, E; Nelson, PV
      Carbohydrate-deficient glycoprotein syndrome: Beyond the screen

      JOURNAL OF INHERITED METABOLIC DISEASE
    20. 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
    21. Van Hove, JLK; Kishnani, PS; Demaerel, P; Kahler, SG; Miller, C; Jaeken, J; Rutledge, SL
      Acute hydrocephalus in nonketotic hyperglycinemia

      NEUROLOGY
    22. 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
    23. 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
    24. Pineda, M; Vilaseca, MA; Artuch, R; Santos, S; Gonzalez, MMG; Sau, I; Aracil, A; Van Schaftingen, E; Jaeken, J
      3-phosphoglycerate dehydrogenase deficiency in a patient with West syndrome

      DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
    25. Klomp, LWJ; de Koning, TJ; Malingre, HEM; van Beurden, EACM; Brink, M; Opdam, FL; Duran, M; Jaeken, J; Pineda, M; van Maldergem, L; Poll-The, BT; van den Berg, IET; Berger, R
      Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency - A neurometabolic disorder associated with reduced L-serine biosynthesis

      AMERICAN JOURNAL OF HUMAN GENETICS
    26. Marie, S; Cuppens, H; Heuterspreute, M; Jaspers, M; Tola, EZ; Gu, XX; Legius, E; Vincent, MF; Jaeken, J; Cassiman, JJ; Van den Berghe, G
      Mutation analysis in adenylosuccinate lyase deficiency: Eight novel mutations in the re-evaluated full ADSL coding sequence

      HUMAN MUTATION
    27. Lukusa, T; Devriendt, K; Jaeken, J; Fryns, JP
      Mild dysmorphic signs in two male sibs with partial trisomy 2q32.1 -> q35 due to maternal ins(14;2) translocation

      CLINICAL DYSMORPHOLOGY
    28. Jaeken, J
      Disorders in aminoglycan synthesis

      ARCHIVES DE PEDIATRIE
    29. 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
    30. Schachter, H; Jaeken, J
      Carbohydrate-deficient glycoprotein syndrome type II

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    31. van der Knaap, MS; Wevers, RA; Kure, S; Gabreels, FJM; Verhoeven, NM; van Raaij-Selten, B; Jaeken, J
      Increased cerebrospinal fluid glycine: A biochemical marker for a leukoencephalopathy with vanishing white matter

      JOURNAL OF CHILD NEUROLOGY
    32. 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
    33. Voit, T; Abe, T; Antunes, NL; Aso, K; Beck, M; Becker, LE; Berthet, F; Bourgeois, B; Braddick, O; Cioni, G; Cowan, F; DiFazio, MP; DiMauro, S; Dodge, N; Enders, G; Forsting, N; Frahm, J; Futagi, Y; Gabreels-Festen, A; Gartner, J; Gillessen-Kaesbach, G; Golden, J; Greisen, G; Guichenai, P; Hagberg, B; Heinen, F; Hohlfeld, R; Holmes, GL; Inoue, Y; Iwamoto, H; Jaeken, J; Kaufmann, W; Kimura, H; Kohyama, J; Korinthenberg, R; Kramer, H; Kreth, W; Krivit, W; Logan, W; Lorenz, B; Lou, H; Martin, JJ; Matshushima, Y; Munnich, A; Naidu, S; Neubauer, W; Oguni, H; Oka, E; Osawa, M; Panayiotopoulos, CP; Partridge, T; Raemaekers, V; Rapin, I; Reis, A; Rivkin, M; Roll, C; Rosenbaum, T; Ross, E; Rotteveel, J; Schroder, JM; Seitz, R; Soul, J; Steinlein, O; Stephani, U; Tanaka, J; Taylor, G; Tome, F; Topcu, N; Tuxhorn, I; Urlesberger, B; Wahn, V; Wenk, G; Wilichowski, E; Wraith, JE; Wynshaw-Boris, A
      Pediatric neurology on the threshold of a new millenium

      NEUROPEDIATRICS
    34. de Koning, TJ; Poll-The, BT; Jaeken, J
      Continuing education in neurometabolic disorders - Serine deficiency disorders

      NEUROPEDIATRICS
    35. de Michelena, MI; Franchi, LM; Summers, PG; De la Fuente, C; Campos, PJ; Jaeken, J
      Carbohydrate-deficient glycoprotein syndrome due to phosphomannomutase deficiency: The first reported cases from Latin America

      AMERICAN JOURNAL OF MEDICAL GENETICS
    36. Medina-Kauwe, LK; Tobin, AJ; De Meirleir, L; Jaeken, J; Jakobs, C; Nyhan, WL; Gibson, KM
      4-aminobutyrate aminotransferase (GABA-transaminase) deficiency

      JOURNAL OF INHERITED METABOLIC DISEASE
    37. Pirard, M; Matthijs, G; Heykants, L; Schollen, E; Grunewald, S; Jaeken, J; van Schaftingen, E
      Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2

      FEBS LETTERS
    38. Devriendt, K; Jaeken, J; Matthijs, G; Van Esch, H; Debeer, P; Gewillig, M; Fryns, JP
      Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency, and persistent patent ductusbotalli

      AMERICAN JOURNAL OF HUMAN GENETICS
    39. 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
    40. MATTHIJS G; SCHOLLEN E; SAUDUBRAY JM; DELONLAY P; DIONISIVICI C; BERTINI E; HENRI H; CASSIMAN JJ; JAEKEN J; VANSCHAFTINGEN E
      IDENTIFICATION OF THE GENETIC-DEFECT IN A VARIANT OF CDG SYNDROME TYPE-I - MUTATIONS IN THE PMI GENE RESULT IN A SEVERE, BUT POTENTIALLY TREATABLE DISORDER

      European journal of human genetics
    41. 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
    42. VANCOSTER RN; ROELENS FA; ESPEEL MF; JAEKEN J
      NORMAL EARLY DEVELOPMENT FOLLOWED BY REGRESSION IN 2 SIBLINGS AFFECTED BY CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I WITH NORMAL ACTIVITIES OF PHOSPHOMANNOMUTASE AND PHOSPHOMANNOSE ISOMERASE

      Annals of neurology
    43. RUTLEDGE SL; KISHNANI P; OAKES J; MILLER C; LAGAE L; JAEKEN J; VANHOVE JLK
      HYDROCEPHALUS IN NONKETOTIC HYPERGLYCINEMIA

      Annals of neurology
    44. DEKONING TJ; DURAN M; DORLAND L; GOOSKENS R; VANSCHAFTINGEN E; JAEKEN J; BLAU N; BERGER R; POLLTHE BT
      BENEFICIAL-EFFECTS OF L-SERINE AND GLYCINE IN THE MANAGEMENT OF SEIZURES IN 3-PHOSPHOGLYCERATE DEHYDROGENASE-DEFICIENCY

      Annals of neurology
    45. 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
    46. PROESMANS W; DECOSTER J; BREYSEM L; JAEKEN J
      3-YEAR-OLD GIRL WITH RICKETS AND HEPATOMEGALY

      European journal of pediatrics
    47. 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
    48. BARONE R; CARCHON H; JANSEN E; PAVONE L; FIUMARA A; BOSSHARD NU; GITZELMANN R; JAEKEN J
      LYSOSOMAL-ENZYME ACTIVITIES IN SERUM AND LEUKOCYTES FROM PATIENTS WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE IA (PHOSPHOMANNOMUTASE DEFICIENCY)

      Journal of inherited metabolic disease
    49. ARTIGAS J; CARDO E; PINEDA M; NOSAS R; JAEKEN J
      PHOSPHOMANNOMUTASE DEFICIENCY AND NORMAL PUBERTAL DEVELOPMENT

      Journal of inherited metabolic disease
    50. Van Hove, JLK; Lazeyras, F; Zeisel, SH; Bottiglieri, T; Hyland, K; Charles, HC; Gray, L; Jaeken, J; Kahler, SG
      One-methyl group metabolism in non-ketotic hyperglycinaemia: Mildly elevated cerebrospinal fluid homocysteine levels

      JOURNAL OF INHERITED METABOLIC DISEASE
    51. BURDA P; BORSIG L; DERIJKVANANDEL J; WEVERS R; JAEKEN J; CARCHON H; BERGER EG; AEBI M
      A NOVEL CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME CHARACTERIZED BYA DEFICIENCY IN GLUCOSYLATION OF THE DOLICHOL-LINKED OLIGOSACCHARIDE

      The Journal of clinical investigation
    52. JAEKEN J; MATTHIJS G; SAUDUBRAY JM; DIONISIVICI C; BERTINI E; DELONLAY P; HENRI H; CARCHON H; SCHOLLEN E; VANSCHAFTINGEN E
      PHOSPHOMANNOSE ISOMERASE DEFICIENCY - A CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME WITH HEPATIC-INTESTINAL PRESENTATION

      American journal of human genetics
    53. MATTHIJS G; SCHOLLEN E; VANSCHAFTINGEN E; CASSIMAN JJ; JAEKEN J
      LACK OF HOMOZYGOTES FOR THE MOST FREQUENT DISEASE ALLELE IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE 1A

      American journal of human genetics
    54. MATTHIJS G; SCHOLLEN E; PARDON E; VEIGADACUNHA M; JAEKEN J; CASSIMAN JJ; VANSCHAFTINGEN E
      MUTATIONS IN PMM2, A PHOSPHOMANNOMUTASE GENE ON CHROMOSOME 16P13, IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN TYPE-I SYNDROME (JAEKEN-SYNDROME)

      Nature genetics
    55. POHL S; HOFFMANN A; RUDIGER A; NIMTZ M; JAEKEN J; CONRADT HS
      HYPOGLYCOSYLATION OF A BRAIN GLYCOPROTEIN (BETA-TRACE PROTEIN) IN CDGSYNDROMES DUE TO PHOSPHOMANNOMUTASE DEFICIENCY AND N-ACETYLGLUCOSAMINYL-TRANSFERASE-II DEFICIENCY

      Glycobiology
    56. COOLS F; JAEKEN J
      HARDIKAR-SYNDROME - A NEW SYNDROME WITH CLEFT LIP PALATE, PIGMENTARY RETINOPATHY AND CHOLESTASIS/

      American journal of medical genetics
    57. MAASWINKELMOOIJ PD; LAAN LAEM; ONKENHOUT W; BROUWER OF; JAEKEN J; POORTHUIS BJHM
      ADENYLOSUCCINASE DEFICIENCY PRESENTING WITH EPILEPSY IN EARLY INFANCY

      Journal of inherited metabolic disease
    58. JAEKEN J; ARTIGAS J; BARONE R; FIUMARA A; DEKONING TJ; POLLTHE BT; DERIJKVANANDEL JF; HOFFMANN GF; ASSMANN B; MAYATEPEK E; PINEDA M; VILASECA MA; SAUDUBRAY JM; SCHLUTER B; WEVERS R; VANSCHAFTINGEN E
      PHOSPHOMANNOMUTASE DEFICIENCY IS THE MAIN CAUSE OF CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME WITH TYPE-I ISOELECTROFOCUSING PATTERN OF SERUM SIALOTRANSFERRINS

      Journal of inherited metabolic disease
    59. VANDENBERGHE G; VINCENT MF; JAEKEN J
      INBORN-ERRORS OF THE PURINE NUCLEOTIDE CYCLE - ADENYLOSUCCINASE DEFICIENCY

      Journal of inherited metabolic disease
    60. JAEKEN J; DETHEUX M; FRYNS JP; COLLET JF; ALLIET P; VANSCHAFTINGEN E
      PHOSPHOSERINE PHOSPHATASE DEFICIENCY IN A PATIENT WITH WILLIAMS-SYNDROME

      Journal of Medical Genetics
    61. JAEKEN J; MATTHIJS G; BARONE R; CARCHON H
      CARBOHYDRATE-DEFICIENT GLYCOPROTEIN (CDG) SYNDROME TYPE-I

      Journal of Medical Genetics
    62. HENRY H; TISSOT JD; MESSERLI B; MARKERT M; MUNTAU A; SKLADAL D; SPERL W; JAEKEN J; WEIDINGER S; HEYNE K; BACHMANN C
      MICROHETEROGENEITY OF SERUM GLYCOPROTEINS AND THEIR LIVER PRECURSORS IN PATIENTS WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I -APPARENT DEFICIENCIES IN CLUSTERIN AND SERUM AMYLOID-P

      The Journal of laboratory and clinical medicine
    63. BOURGUIGNON JP; JAEKEN J; GERARD A; DEZEGHER F
      AMINO-ACID NEUROTRANSMISSION AND INITIATION OF PUBERTY - EVIDENCE FROM NONKETOTIC HYPERGLYCINEMIA IN A FEMALE INFANT AND GONADOTROPIN-RELEASING-HORMONE SECRETION BY RAT HYPOTHALAMIC EXPLANTS

      The Journal of clinical endocrinology and metabolism
    64. RAMAEKERS VT; HEIMANN G; REUL J; THRON A; JAEKEN J
      GENETIC-DISORDERS AND CEREBELLAR STRUCTURAL ABNORMALITIES IN CHILDHOOD

      Brain
    65. MATTHIJS G; SCHOLLEN E; JAEKEN J; VANSCHAFTINGEN E; CASSIMAN JJ
      EXHAUSTIVE MUTATION ANALYSIS OF THE PMM2 GENE IN PATIENTS WITH THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I (CDG1 OR JAEKEN-SYNDROME) AND CLONING OF THE MOUSE PMM1 AND PMM2 GENES

      American journal of human genetics
    66. JAEKEN J
      DEFICIENT SERINE BIOSYNTHESIS

      Molecular and chemical neuropathology
    67. JAEKEN J
      THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROMES

      Molecular and chemical neuropathology
    68. SCHACHTER H; TAN J; DUNN J; JAEKEN J
      MOLECULAR-BASIS OF CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-II

      Glycobiology
    69. MATTHIJS G; LEGIUS E; SCHOLLEN E; VANDENBERK P; JAEKEN J; BARONE R; FIUMARA A; VISSER G; LAMBERT M; CASSIMAN JJ
      EVIDENCE FOR GENETIC-HETEROGENEITY IN THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I (CDG1)

      Genomics
    70. FIUMARA A; BARONE R; BUTTITTA P; MUSSO R; PAVONE L; NIGRO F; JAEKEN J
      HEMOSTATIC STUDIES IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I

      Thrombosis and haemostasis
    71. 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
    72. MATTHIJS G; VANDENBERK P; LEGIUS E; JAEKEN J; CASSIMAN JJ
      CONFIRMATION OF LINKAGE OF CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-1 (CDG1) TO CHROMOSOME 16P13.13-P13.11 AND LINKAGE DISEQUILIBRIUM TO D16S414, D16S497 AND D16S519

      Cytogenetics and cell genetics
    73. VANDERKNAAP MS; WEVERS RA; MONNENS L; JAKOBS C; JAEKEN J; VANWIJK JAE
      CONGENITAL NEPHROTIC SYNDROME - A NOVEL PHENOTYPE OF TYPE-I CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME

      Journal of inherited metabolic disease
    74. JAEKEN J; GOEMANS N; FRYNS JP; FRANCOIS I; DEZEGHER F
      ASSOCIATION OF HYPERPROLINEMIA TYPE-I AND HEPARIN-COFACTOR-II DEFICIENCY WITH CATCH-22-SYNDROME - EVIDENCE FOR A CONTIGUOUS GENE SYNDROME LOCATING THE PROLINE OXIDASE GENE

      Journal of inherited metabolic disease
    75. JAEKEN J; DETHEUX M; VANMALDERGEM L; FRIJNS JP; ALLIET P; FOULON M; CARCHON H; VANSCHAFTINGEN E
      3-PHOSPHOGLYCERATE DEHYDROGENASE-DEFICIENCY AND 3-PHOSPHOSERINE PHOSPHATASE DEFICIENCY - INBORN-ERRORS OF SERINE BIOSYNTHESIS

      Journal of inherited metabolic disease
    76. JAEKEN J; PIRARD M; ADAMOWICZ M; PRONICKA E; VANSCHAFTINGEN E
      INHIBITION OF PHOSPHOMANNOSE ISOMERASE BY FRUCTOSE 1-PHOSPHATE - AN EXPLANATION FOR DEFECTIVE N-GLYCOSYLATION - IN HEREDITARY FRUCTOSE INTOLERANCE

      Pediatric research
    77. CASTEELS I; SPILEERS W; LEYS A; LAGAE L; JAEKEN J
      EVOLUTION OF OPHTHALMIC AND ELECTROPHYSIOLOGICAL FINDINGS IN IDENTICAL TWIN SISTERS WITH THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-1 OVER A PERIOD OF 14 YEARS

      British journal of ophthalmology
    78. JAEKEN J; DETHEUX M; VANMALDERGEM L; FOULON M; CARCHON H; VANSCHAFTINGEN E
      3-PHOSPHOGLYCERATE DEHYDROGENASE-DEFICIENCY - AN INBORN ERROR OF SERINE BIOSYNTHESIS

      Archives of Disease in Childhood
    79. PINEDA M; PAVIA C; VILASECA MA; FERRER I; TEMUDO T; CHABAS A; STIBLER H; JAEKEN J
      NORMAL PUBERTAL DEVELOPMENT IN A FEMALE WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME

      Archives of Disease in Childhood
    80. TAN J; DUNN J; JAEKEN J; SCHACHTER H
      MUTATIONS IN THE MGAT2 GENE CONTROLLING COMPLEX N-GLYCAN SYNTHESIS CAUSE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-II, AN AUTOSOMALRECESSIVE DISEASE WITH DEFECTIVE BRAIN-DEVELOPMENT

      American journal of human genetics
    81. BERTHIER M; ORIOT D; BONNEAU D; JAEKEN J
      DOES A MUTATION OF THE GLYCINE RECEPTOR MODIFY GABA-METABOLISM IN STARTLE DISEASE

      Acta paediatrica
    82. DEZEGHER F; JAEKEN J
      ENDOCRINOLOGY OF THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-1 FROM BIRTH THROUGH ADOLESCENCE

      Pediatric research
    83. SCHLUTER B; BURK G; JAEKEN J; ANDLER W
      MANIFESTATION OF CARBOHYDRATE-DEFICIENT G LYCOPROTEIN SYNDROME TYPE-1IN EARLY INFANCY

      Monatsschrift fur Kinderheilkunde
    84. MACCHIA PE; HARRISON HH; SCHERBERG NH; SUNTHORNTHEPVARAKUL T; JAEKEN J; REFETOFF S
      THYROID-FUNCTION TESTS AND CHARACTERIZATION OF THYROXINE-BINDING GLOBULIN IN THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I

      The Journal of clinical endocrinology and metabolism
    85. VANSCHAFTINGEN E; JAEKEN J
      PHOSPHOMANNOMUTASE DEFICIENCY IS A CAUSE OF CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I

      FEBS letters
    86. CHARUK JHM; TAN J; BERNARDINI M; HADDAD S; REITHMEIER RAF; JAEKEN J; SCHACHTER H
      CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-II - AN AUTOSOMAL RECESSIVE N-ACETYLGLUCOSAMINYLTRANSFERASE-II DEFICIENCY DIFFERENT FROM TYPICAL HEREDITARY ERYTHROBLASTIC MULTINUCLEARITY, WITH A POSITIVE ACIDIFIED-SERUM LYSIS TEST (HEMPAS)

      European journal of biochemistry
    87. MATTHIJS G; LEGIUS E; JAEKEN J; CASSIMAN JJ
      REFINEMENT OF THE CANDIDATE REGION FOR CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-1 (CDG1) ON CHROMOSOME 16P

      American journal of human genetics
    88. MARTINSSON T; BJURSELL C; STIBLER H; KRISTIANSSON B; SKOVBY F; JAEKEN J; BLENNOW G; STROMME P; HANEFELD F; WAHLSTROM J
      LINKAGE OF A LOCUS FOR CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I (CDG1) TO CHROMOSOME 16P, AND LINKAGE DISEQUILIBRIUM TO MICROSATELLITE MARKER D16S406

      Human molecular genetics
    89. EYSKENS F; CEUTERICK C; MARTIN JJ; JANSSENS G; JAEKEN J
      CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME WITH PREVIOUSLY UNREPORTED FEATURES

      Acta paediatrica
    90. BERTHIER M; BONNEAU D; DESBORDES JM; CHEVREL J; ORIOT D; JAEKEN J; LABORIT H
      POSSIBLE INVOLVEMENT OF A GAMMA-HYDROXYBUTYRIC ACID RECEPTOR IN STARTLE DISEASE

      Acta paediatrica
    91. JOHANNIK K; VANHECKE P; FRANCOIS B; MARCHAL G; SMET MH; JAEKEN J; BREYSEM L; WILMS G; BAERT AL
      LOCALIZED BRAIN PROTON NMR-SPECTROSCOPY IN YOUNG-ADULT PHENYLKETONURIA PATIENTS

      Magnetic resonance in medicine
    92. JAEKEN J
      CEREBROSPINAL-FLUID AS A TOOL IN THE DIAGNOSIS OF NEUROMETABOLIC DISEASES - AMINO-ACID-ANALYSIS BEFORE AND AFTER ACID-HYDROLYSIS

      European journal of pediatrics
    93. ALLEWAERT M; LHOIR A; BEUSEN L; BOON P; BRUYLAND M; DEKEYSER J; DEKLIPPEL N; DEROUAUX M; DEWIT P; DHAENE T; DHOOGHE M; EYSKENS F; FOSSELLE E; GEENS K; GODFROI M; GOETHALS J; GUILLAUME D; JAEKEN J; KULAKOWSKI S; LALOUX P; LEGRAND B; LOWENTHAL A; MAERE P; MEERSMAN G; MOL L; MONSEU G; PEETERS E; PILLEN E; PINTELON R; RAETS Y; ROOSE H; ROOSE K; SCALAIS E; SZLIWOWSKI H; TUGENDHAFT P; VANCALSTER L; VANDENBORRE R; VANHAVER H; VANZANDIJCKE M; VINKEN L
      VIGABATRIN IN UNCONTROLLED SEIZURES - BELGIAN CLINICAL-EXPERIENCE

      Clinical neurology and neurosurgery
    94. DEVLIEGER H; JAEKEN J; MOERMAN P; CASAER P; VANASSCHE A; LAUWERYNS J; EGGERMONT E
      INTRACTABLE ASPHYXIA AT BIRTH - ANALYSIS OF THE UNDERLYING CONDITIONS

      European journal of obstetrics, gynecology, and reproductive biology
    95. DEMAEREL P; VANHECKE P; VANOOSTENDE S; BAERT AL; JAEKEN J; DECLERCQ PE; EGGERMONT E; PLETS C
      BACTERIAL METABOLISM SHOWN BY MAGNETIC-RESONANCE SPECTROSCOPY

      Lancet
    96. ZIMMERMANN LJI; DEVLIEGER H; CASAER P; JAEKEN J; EGGERMONT E
      SERUM URIC-ACID CONCENTRATION AS AN INDEX FOR SEVERE PERINATAL ASPHYXIA

      Pediatric research
    97. FIUMARA A; BARONE R; BUTTITTA P; DIPIETRO M; SCUDERI A; NIGRO F; JAEKEN J
      CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I - OPHTHALMIC ASPECTS IN 4 SICILIAN PATIENTS

      British journal of ophthalmology
    98. JAEKEN J; SCHACHTER H; CARCHON H; DECOCK P; CODDEVILLE B; SPIK G
      CARBOHYDRATE-DEFICIENT GLYCOPROTEIN-SYNDROME TYPE-II - A DEFICIENCY IN GOLGI LOCALIZED N-ACETYL-GLUCOSAMINYLTRANSFERASE-II

      Archives of Disease in Childhood
    99. VANHOLE C; DEZEGHER F; CASAER P; DEVLIEGER H; WANDERS RJA; VANHOVE G; JAEKEN J
      A NEW PEROXISOMAL DISORDER WITH FETAL AND NEONATAL ADRENAL INSUFFICIENCY

      Archives of Disease in Childhood
    100. JAEKEN J; CARCHON H; STIBLER H
      THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROMES - PRE-GOLGI AND GOLGI DISORDERS

      Glycobiology


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/08/20 alle ore 22:36:14