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Results: 1-15 |
Results: 15
Genetic and metabolic analysis of the first adult with congenital disorderof glycosylation type Ib: Long-term outcome and effects of mannose supplementation
Authors: Westphal, V Kjaergaard, S Davis, JA Peterson, SM Skovby, F Freeze, HH
Citation: V. Westphal et al., Genetic and metabolic analysis of the first adult with congenital disorderof glycosylation type Ib: Long-term outcome and effects of mannose supplementation, MOL GEN MET, 73(1), 2001, pp. 77-85
Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands
Authors: Santer, R Kinner, M Steuerwald, U Kjaergaard, S Skovby, F Simonsen, H Shaiu, WL Chen, YT Schneppenheim, R Schaub, J
Citation: R. Santer et al., Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands, EUR J HUM G, 9(5), 2001, pp. 388-391
Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40
Authors: Tiecke, F Katzke, S Booms, P Robinson, PN Neumann, L Godfrey, M Mathews, KR Scheuner, M Hinkel, GK Brenner, RE Hovels-Gurich, HH Hagemeier, C Fuchs, J Skovby, F Rosenberg, T
Citation: F. Tiecke et al., Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40, EUR J HUM G, 9(1), 2001, pp. 13-21
Neonatal screening for galactosemia by quantitative analysis of hexose monophosphates using tandem mass spectrometry: A retrospective study
Authors: Jensen, UG Brandt, NJ Christensen, E Skovby, F Norgaard-Pedersen, B Simonsen, H
Citation: Ug. Jensen et al., Neonatal screening for galactosemia by quantitative analysis of hexose monophosphates using tandem mass spectrometry: A retrospective study, CLIN CHEM, 47(8), 2001, pp. 1364-1372
Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrumof the R141H/F119L genotype
Authors: Kjaergaard, S Schwartz, M Skovby, F
Citation: S. Kjaergaard et al., Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrumof the R141H/F119L genotype, ARCH DIS CH, 85(3), 2001, pp. 236-239
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome
Authors: van Bokhoven, H Celli, J Kayserili, H van Beusekom, E Balci, S Brussel, W Skovby, F Kerr, B Percin, EF Akarsu, N Brunner, HG
Citation: H. Van Bokhoven et al., Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome, NAT GENET, 25(4), 2000, pp. 423-426
Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG
Authors: 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
Citation: 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
Clustering of mutations associated with mild Marfan-like phenotypes in the3 ' region of FBN1 suggests a potential genotype-phenotype correlation
Authors: Palz, M Tiecke, F Booms, P Goldner, B Rosenberg, T Fuchs, J Skovby, F Schumacher, H Kaufmann, UC von Kodolitsch, Y Nienaber, CA Leitner, C Katzke, S Vetter, B Hagemeier, C Robinson, PN
Citation: M. Palz et al., Clustering of mutations associated with mild Marfan-like phenotypes in the3 ' region of FBN1 suggests a potential genotype-phenotype correlation, AM J MED G, 91(3), 2000, pp. 212-221
Abnormal timing in the prenatal ossification of vertebral column and hand in Crouzon syndrome
Authors: Kjaer, I Hansen, BF Kjaer, KW Skovby, F
Citation: I. Kjaer et al., Abnormal timing in the prenatal ossification of vertebral column and hand in Crouzon syndrome, AM J MED G, 90(5), 2000, pp. 386-389
Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoAdehydrogenase deficiency: Identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenasesin isoleucine and valine metabolism
Authors: Andresen, BS Christensen, E Corydon, TJ Bross, P Pilgaard, B Wanders, RJA Ruiter, JPN Simonsen, H Winter, V Knudsen, I Schroeder, LD Gregersen, N Skovby, F
Citation: Bs. Andresen et al., Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoAdehydrogenase deficiency: Identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenasesin isoleucine and valine metabolism, AM J HU GEN, 67(5), 2000, pp. 1095-1103
High incidence of propionic acidemia in Greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase
Authors: Ravn, K Chloupkova, M Christensen, E Brandt, NJ Simonsen, H Kraus, JP Nielsen, IM Skovby, F Schwartz, M
Citation: K. Ravn et al., High incidence of propionic acidemia in Greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase, AM J HU GEN, 67(1), 2000, pp. 203-206
Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E-coli
Authors: Kjaergaard, S Skovby, F Schwartz, M
Citation: S. Kjaergaard et al., Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E-coli, EUR J HUM G, 7(8), 1999, pp. 884-888
Bone mineral content and collagen defects in osteogenesis imperfecta
Authors: Lund, AM Molgaard, C Muller, J Skovby, F
Citation: Am. Lund et al., Bone mineral content and collagen defects in osteogenesis imperfecta, ACT PAEDIAT, 88(10), 1999, pp. 1083-1088
Anthropometry of patients with osteogenesis imperfecta
Authors: Lund, AM Muller, J Skovby, F
Citation: Am. Lund et al., Anthropometry of patients with osteogenesis imperfecta, ARCH DIS CH, 80(6), 1999, pp. 524-528
Recurrent fetal polycystic kidneys associated with glutaric aciduria type II
Authors: Kjaergaard, S Graem, N Larsen, T Skovby, F
Citation: S. Kjaergaard et al., Recurrent fetal polycystic kidneys associated with glutaric aciduria type II, APMIS, 106(12), 1998, pp. 1188-1193
Risultati: 1-15 |