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
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
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
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
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
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
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
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
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
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
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
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