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Helvetica Paediatrica Acta|April 1, 1977
Uridine diphosphate galactose 4'-epimerase deficiency. IV. Report of eight cases in three familiesR Gitzelmann, B Steinmann, B Mitchell, et al.
American Journal of Medical Genetics|May 3, 1996
A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlationsA Superti-Furga, A Rossi, B Steinmann, et al.
European Journal of Pediatrics|May 1, 1991
Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutationA Superti-Furga, B Steinmann, G Duc, et al.
Helvetica Paediatrica Acta|December 1, 1978
Hereditary fructose intolerance in early childhood: a major diagnostic challenge. Survey of 20 symptomatic casesK Baerlocher, R Gitzelmann, B Steinmann, et al.
The Journal of Biological Chemistry|May 5, 1988
Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagenA Superti-Furga, E Gugler, R Gitzelmann, et al.
Pediatric Research|February 1, 1987
The renal handling of carnitine in patients with selective tubulopathy and with Fanconi syndromeB Steinmann, C Bachmann, J P Colombo, et al.
Pediatric Research|October 1, 1994
Changes of liver metabolite concentrations in adults with disorders of fructose metabolism after intravenous fructose by 31P magnetic resonance spectroscopyP Boesiger, R Buchli, D Meier, et al.
Pediatric Research|March 1, 1984
Short communication. Glycogenosis Ib: neutrophil microbicidal defects due to impaired hexose monophosphate shuntR Seger, B Steinmann, L Tiefenauer, et al.
Biochemical and Biophysical Research Communications|April 30, 1990
Collagen degradation in I-cells is normalR S Bienkowski, C R Ripley, R Gitzelmann, et al.
European Journal of Pediatrics|May 1, 1985
Anomalous eosinophil granulocytes in blood and bone marrow: a diagnostic marker for infantile GM1-gangliosidosis?R Gitzelmann, M A Spycher, S Adank, et al.
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