Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene
Superti-Furga, Andrea, Hästbacka, Johanna, Wilcox, William R, Cohn, Daniel H, van der Harten, Hans J, Rossi, Antonio, Blau, Nenad, Rimoin, David L, Steinmann, Beat, Lander, Eric S, Gitzelmann, Richard
Published in Nature genetics (01.01.1996)
Published in Nature genetics (01.01.1996)
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Novel mutations in 13 probands with galactokinase deficiency
Kolosha, V., Anoia, E., de Cespedes, C., Gitzelmann, R., Shih, L., Casco, T., Saborio, M., Trejos, R., Buist, N., Tedesco, T., Skach, W., Mitelmann, O., Ledee, D., Huang, K., Stambolian, D.
Published in Human mutation (01.05.2000)
Published in Human mutation (01.05.2000)
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A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia
Superti-Furga, A, Eich, G, Bucher, H U, Wisser, J, Giedion, A, Gitzelmann, R, Steinmann, B
Published in European journal of pediatrics (01.03.1995)
Published in European journal of pediatrics (01.03.1995)
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Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen
Superti-Furga, A, Gugler, E, Gitzelmann, R, Steinmann, B
Published in The Journal of biological chemistry (05.05.1988)
Published in The Journal of biological chemistry (05.05.1988)
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Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA
Superti-Furga, A, Schoenle, E, Tuchschmid, P, Caduff, R, Sabato, V, DeMattia, D, Gitzelmann, R, Steinmann, B
Published in European journal of pediatrics (01.01.1993)
Published in European journal of pediatrics (01.01.1993)
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Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate‐deficient glycoprotein syndrome type IA (phosphomannomutase deficiency)
Barone, R., Carchon, H., Jansen, E., Pavone, L., Fiumara, A., Bosshard, N. U., Gitzelmann, R., Jaeken, J.
Published in Journal of inherited metabolic disease (01.04.1998)
Published in Journal of inherited metabolic disease (01.04.1998)
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Liver glycogen synthase deficiency : a rarely diagnosed entity
GITZELMANN, R, SPYCHER, M. A, FEIL, G, MÜLLER, J, SEILNACHT, B, STAHL, M, BOSSHARD, N. U
Published in European journal of pediatrics (01.07.1996)
Published in European journal of pediatrics (01.07.1996)
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Feline mucopolysaccharidosis VII due to beta-glucuronidase deficiency
Gitzelmann, R, Bosshard, N U, Superti-Furga, A, Spycher, M A, Briner, J, Wiesmann, U, Lutz, H, Litschi, B
Published in Veterinary pathology (01.07.1994)
Published in Veterinary pathology (01.07.1994)
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Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta
Steinmann, B, Rao, V H, Vogel, A, Bruckner, P, Gitzelmann, R, Byers, P H
Published in The Journal of biological chemistry (10.09.1984)
Published in The Journal of biological chemistry (10.09.1984)
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Molecular analysis of aldolase B genes in hereditary fructose intolerance
Cross, N C, de Franchis, R, Sebastio, G, Dazzo, C, Tolan, D R, Gregori, C, Odievre, M, Vidailhet, M, Romano, V, Mascali, G
Published in The Lancet (British edition) (10.02.1990)
Published in The Lancet (British edition) (10.02.1990)
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Cysteine in the triple-helical domain of one allelic product of the α1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta
STEINMANN, B, RAO, V. H, VOGEL, A, BRUCKNER, P, GITZELMANN, R, BYERS, P. H
Published in The Journal of biological chemistry (1984)
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Published in The Journal of biological chemistry (1984)
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A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans
Superti-Furga, A, Hästbacka, J, Rossi, A, van der Harten, J J, Wilcox, W R, Cohn, D H, Rimoin, D L, Steinmann, B, Lander, E S, Gitzelmann, R
Published in Annals of the New York Academy of Sciences (01.06.1996)
Published in Annals of the New York Academy of Sciences (01.06.1996)
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