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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
   
   E. Zdebska et al., "Band 3 glycoprotein and glycophorin A from erythrocytes of children with congenital disorder of glycosylation type-la are underglycosylated", PROTEOMICS, 1(2), 2001, pp. 269-274
2. Jaeken, J; Matthijs, G
   Congenital disorders of glycosylation
   ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
   
   J. Jaeken e G. Matthijs, "Congenital disorders of glycosylation", ANN REV GEN, 2, 2001, pp. 129-151
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
   
   K. Freson et al., "Genetic variation of the extra-large stimulatory G protein alpha-subunit leads to Gs hyperfunction in platelets and is a risk factor for bleeding", THROMB HAEM, 86(3), 2001, pp. 733-738
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
   
   M.G. Hausler et al., "Phenotypic heterogeneity and adverse effects of serine treatment in 3-phosphoglycerate dehydrogenase deficiency: Report on two siblings", NEUROPEDIAT, 32(4), 2001, pp. 191-195
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
   
   C. Van Geet et al., "Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications", J INH MET D, 24(4), 2001, pp. 477-492
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
   
   P. de Lonlay et al., "A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases", J MED GENET, 38(1), 2001, pp. 14-19
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
   
   B. Schenk et al., "MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If", J CLIN INV, 108(11), 2001, pp. 1687-1695
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
   
   W. Van Dijk et al., "Increased alpha 3-fucosylation of alpha 1-acid glycoprotein in patients with congenital disorder of glycosylation type IA (CDG-Ia)", FEBS LETTER, 494(3), 2001, pp. 232-235
9. Carchon, HA; Jaeken, J
   Determination of D-mannose in serum by capillary electrophoresis
   CLINICAL CHEMISTRY
   
   H.A. Carchon e J. Jaeken, "Determination of D-mannose in serum by capillary electrophoresis", CLIN CHEM, 47(7), 2001, pp. 1319-1321
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
    
    S. Grunewald et al., "High residual activity of PMM2 in patients' fibroblasts: Possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency)", AM J HU GEN, 68(2), 2001, pp. 347-354
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
    
    N. Blau et al., "Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS", HUM MUTAT, 16(1), 2000, pp. 54-60
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
    
    J. Purroy et al., "Detection of two novel large deletions in SLC3A1 by semi-quantitative fluorescent multiplex PCR", HUM MUTAT, 15(4), 2000, pp. 373-379
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
    
    M. Aebi et al., "Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG", GLYCOBIOLOG, 10(6), 2000, pp. III-V
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
    
    S. Grunewald et al., "Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis", ANN NEUROL, 47(6), 2000, pp. 776-781
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
    
    T. Imbach et al., "Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic", HUM GENET, 106(5), 2000, pp. 538-545
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
    
    L. Corbeel et al., "Long-term follow-up of portacaval shunt in glycogen storage disease type 1B", EUR J PED, 159(4), 2000, pp. 268-272
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
    
    T.J. de Koning et al., "Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency", NEUROPEDIAT, 31(6), 2000, pp. 287-292
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
    
    N.G.G.M. Abeling et al., "Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiency", J INH MET D, 23(4), 2000, pp. 325-328
19. Fletcher, JM; Matthijs, G; Jaeken, J; Van Schaftingen, E; Nelson, PV
    Carbohydrate-deficient glycoprotein syndrome: Beyond the screen
    JOURNAL OF INHERITED METABOLIC DISEASE
    
    J.M. Fletcher et al., "Carbohydrate-deficient glycoprotein syndrome: Beyond the screen", J INH MET D, 23(4), 2000, pp. 396-398
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
    
    C. Knopf et al., "Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism", J INH MET D, 23(4), 2000, pp. 399-403
21. Van Hove, JLK; Kishnani, PS; Demaerel, P; Kahler, SG; Miller, C; Jaeken, J; Rutledge, SL
    Acute hydrocephalus in nonketotic hyperglycinemia
    NEUROLOGY
    
    J.L.K. Van Hove et al., "Acute hydrocephalus in nonketotic hyperglycinemia", NEUROLOGY, 54(3), 2000, pp. 754-756
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
    
    C.H. van Ommen et al., "Carbohydrate-deficient glycoprotein syndrome type 1a: A variant phenotype with borderline cognitive dysfunction, cerebellar hypoplasia, and coagulation disturbances", J PEDIAT, 136(3), 2000, pp. 400-403
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
    
    T. Imbach et al., "Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie", J CLIN INV, 105(2), 2000, pp. 233-239
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
    
    M. Pineda et al., "3-phosphoglycerate dehydrogenase deficiency in a patient with West syndrome", DEVELOP MED, 42(9), 2000, pp. 629-633
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
    
    L.W.J. Klomp et al., "Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency - A neurometabolic disorder associated with reduced L-serine biosynthesis", AM J HU GEN, 67(6), 2000, pp. 1389-1399
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
    
    S. Marie et al., "Mutation analysis in adenylosuccinate lyase deficiency: Eight novel mutations in the re-evaluated full ADSL coding sequence", HUM MUTAT, 13(3), 1999, pp. 197-202
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
    
    T. Lukusa et al., "Mild dysmorphic signs in two male sibs with partial trisomy 2q32.1 -> q35 due to maternal ins(14;2) translocation", CLIN DYSMOR, 8(1), 1999, pp. 47-51
28. Jaeken, J
    Disorders in aminoglycan synthesis
    ARCHIVES DE PEDIATRIE
    
    J. Jaeken, "Disorders in aminoglycan synthesis", ARCH PED, 6, 1999, pp. 203S-205S
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
    
    H. Carchon et al., "Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency)", BBA-MOL BAS, 1455(2-3), 1999, pp. 155-165
30. Schachter, H; Jaeken, J
    Carbohydrate-deficient glycoprotein syndrome type II
    BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    
    H. Schachter e J. Jaeken, "Carbohydrate-deficient glycoprotein syndrome type II", BBA-MOL BAS, 1455(2-3), 1999, pp. 179-192
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
    
    M.S. van der Knaap et al., "Increased cerebrospinal fluid glycine: A biochemical marker for a leukoencephalopathy with vanishing white matter", J CHILD NEU, 14(11), 1999, pp. 728-731
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
    
    R. Barone et al., "Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency)", BRAIN DEVEL, 21(4), 1999, pp. 260-263
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
    
    T. Voit et al., "Pediatric neurology on the threshold of a new millenium", NEUROPEDIAT, 30(6), 1999, pp. 277-277
34. de Koning, TJ; Poll-The, BT; Jaeken, J
    Continuing education in neurometabolic disorders - Serine deficiency disorders
    NEUROPEDIATRICS
    
    T.J. de Koning et al., "Continuing education in neurometabolic disorders - Serine deficiency disorders", NEUROPEDIAT, 30(1), 1999, pp. 1-4
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
    
    M.I. de Michelena et al., "Carbohydrate-deficient glycoprotein syndrome due to phosphomannomutase deficiency: The first reported cases from Latin America", AM J MED G, 84(5), 1999, pp. 481-483
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
    
    L.K. Medina-Kauwe et al., "4-aminobutyrate aminotransferase (GABA-transaminase) deficiency", J INH MET D, 22(4), 1999, pp. 414-427
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
    
    M. Pirard et al., "Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2", FEBS LETTER, 452(3), 1999, pp. 319-322
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
    
    K. Devriendt et al., "Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency, and persistent patent ductusbotalli", AM J HU GEN, 65(1), 1999, pp. 249-251
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
    
    G. Matthijs et al., "PRENATAL-DIAGNOSIS IN CDG1 FAMILIES - BEWARE OF HETEROGENEITY", European journal of human genetics, 6(2), 1998, pp. 99-104
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
    
    G. Matthijs et al., "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, 6, 1998, pp. 5006-5006
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
    
    M. Bergmann et al., "ABNORMAL SURFACE EXPRESSION OF SIALOGLYCANS ON B-LYMPHOCYTE CELL-LINES FROM PATIENTS WITH CARBOHYDRATE-DEFICIENT-GLYCOPROTEIN-SYNDROME-I-A (CDGS-I-A)", Glycobiology, 8(10), 1998, pp. 963-972
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
    
    R.N. Vancoster et al., "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, 44(3), 1998, pp. 36-36
43. RUTLEDGE SL; KISHNANI P; OAKES J; MILLER C; LAGAE L; JAEKEN J; VANHOVE JLK
    HYDROCEPHALUS IN NONKETOTIC HYPERGLYCINEMIA
    Annals of neurology
    
    S.L. Rutledge et al., "HYDROCEPHALUS IN NONKETOTIC HYPERGLYCINEMIA", Annals of neurology, 44(3), 1998, pp. 58-58
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
    
    T.J. Dekoning et al., "BENEFICIAL-EFFECTS OF L-SERINE AND GLYCINE IN THE MANAGEMENT OF SEIZURES IN 3-PHOSPHOGLYCERATE DEHYDROGENASE-DEFICIENCY", Annals of neurology, 44(2), 1998, pp. 261-265
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
    
    C. Garel et al., "CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I - A NEW CAUSE OF DYSOSTOSIS MULTIPLEX", Skeletal radiology, 27(1), 1998, pp. 43-45
46. PROESMANS W; DECOSTER J; BREYSEM L; JAEKEN J
    3-YEAR-OLD GIRL WITH RICKETS AND HEPATOMEGALY
    European journal of pediatrics
    
    W. Proesmans et al., "3-YEAR-OLD GIRL WITH RICKETS AND HEPATOMEGALY", European journal of pediatrics, 157(1), 1998, pp. 83-84
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
    
    B. Coddeville et al., "DETERMINATION OF GLYCAN STRUCTURES AND MOLECULAR MASSES OF THE GLYCOVARIANTS OF SERUM TRANSFERRIN FROM A PATIENT WITH CARBOHYDRATE-DEFICIENT SYNDROME TYPE-II", Glycoconjugate journal, 15(3), 1998, pp. 265-273
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
    
    R. Barone et al., "LYSOSOMAL-ENZYME ACTIVITIES IN SERUM AND LEUKOCYTES FROM PATIENTS WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE IA (PHOSPHOMANNOMUTASE DEFICIENCY)", Journal of inherited metabolic disease, 21(2), 1998, pp. 167-172
49. ARTIGAS J; CARDO E; PINEDA M; NOSAS R; JAEKEN J
    PHOSPHOMANNOMUTASE DEFICIENCY AND NORMAL PUBERTAL DEVELOPMENT
    Journal of inherited metabolic disease
    
    J. Artigas et al., "PHOSPHOMANNOMUTASE DEFICIENCY AND NORMAL PUBERTAL DEVELOPMENT", Journal of inherited metabolic disease, 21(1), 1998, pp. 78-79
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
    
    J.L.K. Van Hove et al., "One-methyl group metabolism in non-ketotic hyperglycinaemia: Mildly elevated cerebrospinal fluid homocysteine levels", J INH MET D, 21(8), 1998, pp. 799-811
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
    
    P. Burda et al., "A NOVEL CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME CHARACTERIZED BYA DEFICIENCY IN GLUCOSYLATION OF THE DOLICHOL-LINKED OLIGOSACCHARIDE", The Journal of clinical investigation, 102(4), 1998, pp. 647-652
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
    
    J. Jaeken et al., "PHOSPHOMANNOSE ISOMERASE DEFICIENCY - A CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME WITH HEPATIC-INTESTINAL PRESENTATION", American journal of human genetics, 62(6), 1998, pp. 1535-1539
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
    
    G. Matthijs et al., "LACK OF HOMOZYGOTES FOR THE MOST FREQUENT DISEASE ALLELE IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE 1A", American journal of human genetics, 62(3), 1998, pp. 542-550
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
    
    G. Matthijs et al., "MUTATIONS IN PMM2, A PHOSPHOMANNOMUTASE GENE ON CHROMOSOME 16P13, IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN TYPE-I SYNDROME (JAEKEN-SYNDROME)", Nature genetics, 16(1), 1997, pp. 88-92
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
    
    S. Pohl et al., "HYPOGLYCOSYLATION OF A BRAIN GLYCOPROTEIN (BETA-TRACE PROTEIN) IN CDGSYNDROMES DUE TO PHOSPHOMANNOMUTASE DEFICIENCY AND N-ACETYLGLUCOSAMINYL-TRANSFERASE-II DEFICIENCY", Glycobiology, 7(8), 1997, pp. 1077-1084
56. COOLS F; JAEKEN J
    HARDIKAR-SYNDROME - A NEW SYNDROME WITH CLEFT LIP PALATE, PIGMENTARY RETINOPATHY AND CHOLESTASIS/
    American journal of medical genetics
    
    F. Cools e J. Jaeken, "HARDIKAR-SYNDROME - A NEW SYNDROME WITH CLEFT LIP PALATE, PIGMENTARY RETINOPATHY AND CHOLESTASIS/", American journal of medical genetics, 71(4), 1997, pp. 472-474
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
    
    P.D. Maaswinkelmooij et al., "ADENYLOSUCCINASE DEFICIENCY PRESENTING WITH EPILEPSY IN EARLY INFANCY", Journal of inherited metabolic disease, 20(4), 1997, pp. 606-607
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
    
    J. Jaeken et al., "PHOSPHOMANNOMUTASE DEFICIENCY IS THE MAIN CAUSE OF CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME WITH TYPE-I ISOELECTROFOCUSING PATTERN OF SERUM SIALOTRANSFERRINS", Journal of inherited metabolic disease, 20(3), 1997, pp. 447-449
59. VANDENBERGHE G; VINCENT MF; JAEKEN J
    INBORN-ERRORS OF THE PURINE NUCLEOTIDE CYCLE - ADENYLOSUCCINASE DEFICIENCY
    Journal of inherited metabolic disease
    
    G. Vandenberghe et al., "INBORN-ERRORS OF THE PURINE NUCLEOTIDE CYCLE - ADENYLOSUCCINASE DEFICIENCY", Journal of inherited metabolic disease, 20(2), 1997, pp. 193-202
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
    
    J. Jaeken et al., "PHOSPHOSERINE PHOSPHATASE DEFICIENCY IN A PATIENT WITH WILLIAMS-SYNDROME", Journal of Medical Genetics, 34(7), 1997, pp. 594-596
61. JAEKEN J; MATTHIJS G; BARONE R; CARCHON H
    CARBOHYDRATE-DEFICIENT GLYCOPROTEIN (CDG) SYNDROME TYPE-I
    Journal of Medical Genetics
    
    J. Jaeken et al., "CARBOHYDRATE-DEFICIENT GLYCOPROTEIN (CDG) SYNDROME TYPE-I", Journal of Medical Genetics, 34(1), 1997, pp. 73-76
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
    
    H. Henry et al., "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, 129(4), 1997, pp. 412-421
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
    
    J.P. Bourguignon et al., "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, 82(6), 1997, pp. 1899-1903
64. RAMAEKERS VT; HEIMANN G; REUL J; THRON A; JAEKEN J
    GENETIC-DISORDERS AND CEREBELLAR STRUCTURAL ABNORMALITIES IN CHILDHOOD
    Brain
    
    V.T. Ramaekers et al., "GENETIC-DISORDERS AND CEREBELLAR STRUCTURAL ABNORMALITIES IN CHILDHOOD", Brain, 120, 1997, pp. 1739-1751
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
    
    G. Matthijs et al., "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, 61(4), 1997, pp. 52-52
66. JAEKEN J
    DEFICIENT SERINE BIOSYNTHESIS
    Molecular and chemical neuropathology
    
    J. Jaeken, "DEFICIENT SERINE BIOSYNTHESIS", Molecular and chemical neuropathology, 27(1), 1996, pp. 83-84
67. JAEKEN J
    THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROMES
    Molecular and chemical neuropathology
    
    J. Jaeken, "THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROMES", Molecular and chemical neuropathology, 27(1), 1996, pp. 84-86
68. SCHACHTER H; TAN J; DUNN J; JAEKEN J
    MOLECULAR-BASIS OF CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-II
    Glycobiology
    
    H. Schachter et al., "MOLECULAR-BASIS OF CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-II", Glycobiology, 6(7), 1996, pp. 4-4
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
    
    G. Matthijs et al., "EVIDENCE FOR GENETIC-HETEROGENEITY IN THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I (CDG1)", Genomics, 35(3), 1996, pp. 597-599
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
    
    A. Fiumara et al., "HEMOSTATIC STUDIES IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I", Thrombosis and haemostasis, 76(4), 1996, pp. 502-504
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
    
    L. Pavone et al., "OLIVOPONTOCEREBELLAR ATROPHY LEADING TO RECOGNITION OF CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I", Journal of neurology, 243(10), 1996, pp. 700-705
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
    
    G. Matthijs et al., "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, 72(4), 1996, pp. 16-16
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
    
    M.S. Vanderknaap et al., "CONGENITAL NEPHROTIC SYNDROME - A NOVEL PHENOTYPE OF TYPE-I CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME", Journal of inherited metabolic disease, 19(6), 1996, pp. 787-791
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
    
    J. Jaeken et al., "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, 19(3), 1996, pp. 275-277
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
    
    J. Jaeken et al., "3-PHOSPHOGLYCERATE DEHYDROGENASE-DEFICIENCY AND 3-PHOSPHOSERINE PHOSPHATASE DEFICIENCY - INBORN-ERRORS OF SERINE BIOSYNTHESIS", Journal of inherited metabolic disease, 19(2), 1996, pp. 223-226
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
    
    J. Jaeken et al., "INHIBITION OF PHOSPHOMANNOSE ISOMERASE BY FRUCTOSE 1-PHOSPHATE - AN EXPLANATION FOR DEFECTIVE N-GLYCOSYLATION - IN HEREDITARY FRUCTOSE INTOLERANCE", Pediatric research, 40(5), 1996, pp. 764-766
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
    
    I. Casteels et al., "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, 80(10), 1996, pp. 900-902
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
    
    J. Jaeken et al., "3-PHOSPHOGLYCERATE DEHYDROGENASE-DEFICIENCY - AN INBORN ERROR OF SERINE BIOSYNTHESIS", Archives of Disease in Childhood, 74(6), 1996, pp. 542-545
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
    
    M. Pineda et al., "NORMAL PUBERTAL DEVELOPMENT IN A FEMALE WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME", Archives of Disease in Childhood, 74(3), 1996, pp. 242-243
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
    
    J. Tan et al., "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, 59(4), 1996, pp. 810-817
81. BERTHIER M; ORIOT D; BONNEAU D; JAEKEN J
    DOES A MUTATION OF THE GLYCINE RECEPTOR MODIFY GABA-METABOLISM IN STARTLE DISEASE
    Acta paediatrica
    
    M. Berthier et al., "DOES A MUTATION OF THE GLYCINE RECEPTOR MODIFY GABA-METABOLISM IN STARTLE DISEASE", Acta paediatrica, 84(1), 1995, pp. 5-5
82. DEZEGHER F; JAEKEN J
    ENDOCRINOLOGY OF THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-1 FROM BIRTH THROUGH ADOLESCENCE
    Pediatric research
    
    F. Dezegher e J. Jaeken, "ENDOCRINOLOGY OF THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-1 FROM BIRTH THROUGH ADOLESCENCE", Pediatric research, 37(4), 1995, pp. 395-401
83. SCHLUTER B; BURK G; JAEKEN J; ANDLER W
    MANIFESTATION OF CARBOHYDRATE-DEFICIENT G LYCOPROTEIN SYNDROME TYPE-1IN EARLY INFANCY
    Monatsschrift fur Kinderheilkunde
    
    B. Schluter et al., "MANIFESTATION OF CARBOHYDRATE-DEFICIENT G LYCOPROTEIN SYNDROME TYPE-1IN EARLY INFANCY", Monatsschrift fur Kinderheilkunde, 143(1), 1995, pp. 31-35
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
    
    P.E. Macchia et al., "THYROID-FUNCTION TESTS AND CHARACTERIZATION OF THYROXINE-BINDING GLOBULIN IN THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I", The Journal of clinical endocrinology and metabolism, 80(12), 1995, pp. 3744-3749
85. VANSCHAFTINGEN E; JAEKEN J
    PHOSPHOMANNOMUTASE DEFICIENCY IS A CAUSE OF CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I
    FEBS letters
    
    E. Vanschaftingen e J. Jaeken, "PHOSPHOMANNOMUTASE DEFICIENCY IS A CAUSE OF CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I", FEBS letters, 377(3), 1995, pp. 318-320
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
    
    J.H.M. Charuk et al., "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, 230(2), 1995, pp. 797-805
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
    
    G. Matthijs et al., "REFINEMENT OF THE CANDIDATE REGION FOR CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-1 (CDG1) ON CHROMOSOME 16P", American journal of human genetics, 57(4), 1995, pp. 1268-1268
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
    
    T. Martinsson et al., "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, 3(11), 1994, pp. 2037-2042
89. EYSKENS F; CEUTERICK C; MARTIN JJ; JANSSENS G; JAEKEN J
    CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME WITH PREVIOUSLY UNREPORTED FEATURES
    Acta paediatrica
    
    F. Eyskens et al., "CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME WITH PREVIOUSLY UNREPORTED FEATURES", Acta paediatrica, 83(8), 1994, pp. 892-896
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
    
    M. Berthier et al., "POSSIBLE INVOLVEMENT OF A GAMMA-HYDROXYBUTYRIC ACID RECEPTOR IN STARTLE DISEASE", Acta paediatrica, 83(6), 1994, pp. 678-680
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
    
    K. Johannik et al., "LOCALIZED BRAIN PROTON NMR-SPECTROSCOPY IN YOUNG-ADULT PHENYLKETONURIA PATIENTS", Magnetic resonance in medicine, 31(1), 1994, pp. 53-57
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
    
    J. Jaeken, "CEREBROSPINAL-FLUID AS A TOOL IN THE DIAGNOSIS OF NEUROMETABOLIC DISEASES - AMINO-ACID-ANALYSIS BEFORE AND AFTER ACID-HYDROLYSIS", European journal of pediatrics, 153(7), 1994, pp. 190000086-190000089
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
    
    M. Allewaert et al., "VIGABATRIN IN UNCONTROLLED SEIZURES - BELGIAN CLINICAL-EXPERIENCE", Clinical neurology and neurosurgery, 96(1), 1994, pp. 42-46
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
    
    H. Devlieger et al., "INTRACTABLE ASPHYXIA AT BIRTH - ANALYSIS OF THE UNDERLYING CONDITIONS", European journal of obstetrics, gynecology, and reproductive biology, 54(1), 1994, pp. 21-24
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
    
    P. Demaerel et al., "BACTERIAL METABOLISM SHOWN BY MAGNETIC-RESONANCE SPECTROSCOPY", Lancet, 344(8931), 1994, pp. 1234-1235
96. ZIMMERMANN LJI; DEVLIEGER H; CASAER P; JAEKEN J; EGGERMONT E
    SERUM URIC-ACID CONCENTRATION AS AN INDEX FOR SEVERE PERINATAL ASPHYXIA
    Pediatric research
    
    L.J.I. Zimmermann et al., "SERUM URIC-ACID CONCENTRATION AS AN INDEX FOR SEVERE PERINATAL ASPHYXIA", Pediatric research, 36(1), 1994, pp. 10000046-10000046
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
    
    A. Fiumara et al., "CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I - OPHTHALMIC ASPECTS IN 4 SICILIAN PATIENTS", British journal of ophthalmology, 78(11), 1994, pp. 845-846
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
    
    J. Jaeken et al., "CARBOHYDRATE-DEFICIENT GLYCOPROTEIN-SYNDROME TYPE-II - A DEFICIENCY IN GOLGI LOCALIZED N-ACETYL-GLUCOSAMINYLTRANSFERASE-II", Archives of Disease in Childhood, 71(2), 1994, pp. 123-127
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
    
    C. Vanhole et al., "A NEW PEROXISOMAL DISORDER WITH FETAL AND NEONATAL ADRENAL INSUFFICIENCY", Archives of Disease in Childhood, 71(1), 1994, pp. 60000055-60000056
100. JAEKEN J; CARCHON H; STIBLER H
     THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROMES - PRE-GOLGI AND GOLGI DISORDERS
     Glycobiology
     
     J. Jaeken et al., "THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROMES - PRE-GOLGI AND GOLGI DISORDERS", Glycobiology, 3(5), 1993, pp. 423-428