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R Gitzelmann

Showing results (61-70 of 117) with videos related to

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European Journal of Pediatrics|November 1, 1996
Microcephaly and maternal phenylketonuriaA Superti-Furga, B Steinmann, G Duc, 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|January 1, 1979
Nutritive value of N-acetyl-L-tryptophan in manH Wegmann, H C Curtius, R Gitzelmann, 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.
Helvetica Paediatrica Acta|March 1, 1987
[Mucopolysaccharidosis IV-A (Maroteaux-Lamy disease, severe form): incipient compressive myelopathy, cerebrospinal fluid fistula and tracheal stenosis in an adult patient]S Rampini, W Grauer, H G Imhof, et al.
Biochemical and Biophysical Research Communications|August 19, 1974
Antibody activation of mutant human fructosediphosphate aldolase B in liver extracts of patients with hereditary fructose intoleranceR Gitzelmann, B Steinmann, C Bally, et al.
European Journal of Pediatrics|December 3, 1998
Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 yearsJ Hendrickx, N U Bosshard, P Willems, et al.
Deutsche Medizinische Wochenschrift (1946)|April 6, 1990
[Adults with hereditary fructose intolerance: risks of fructose infusion]I Steegmanns, M Rittmann, J R Bayerl, 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.
Pageof 12

Showing results (61-70 of 117) with videos related to

Sort By:
Pageof 12
European Journal of Pediatrics|November 1, 1996
Microcephaly and maternal phenylketonuriaA Superti-Furga, B Steinmann, G Duc, 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|January 1, 1979
Nutritive value of N-acetyl-L-tryptophan in manH Wegmann, H C Curtius, R Gitzelmann, 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.
Helvetica Paediatrica Acta|March 1, 1987
[Mucopolysaccharidosis IV-A (Maroteaux-Lamy disease, severe form): incipient compressive myelopathy, cerebrospinal fluid fistula and tracheal stenosis in an adult patient]S Rampini, W Grauer, H G Imhof, et al.
Biochemical and Biophysical Research Communications|August 19, 1974
Antibody activation of mutant human fructosediphosphate aldolase B in liver extracts of patients with hereditary fructose intoleranceR Gitzelmann, B Steinmann, C Bally, et al.
European Journal of Pediatrics|December 3, 1998
Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 yearsJ Hendrickx, N U Bosshard, P Willems, et al.
Deutsche Medizinische Wochenschrift (1946)|April 6, 1990
[Adults with hereditary fructose intolerance: risks of fructose infusion]I Steegmanns, M Rittmann, J R Bayerl, 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.
Pageof 12