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R Gitzelmann

Showing results (91-100 of 117) with videos related to

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Helvetica Paediatrica Acta|October 1, 1975
Ehlers-Danlos syndrome in two siblings with deficient lysyl hydroxylase activity in cultured skin fibroblasts but only mild hydroxylysine deficit in skinB Steinmann, R Gitzelmann, A Vogel, et al.
The Journal of Biological Chemistry|September 10, 1984
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 imperfectaB Steinmann, V H Rao, A Vogel, et al.
Helvetica Paediatrica Acta|January 1, 1981
A case of fatal hereditary fructose intolerance. Misleading information of formula compositionA von Ruecker, W Endres, Y S Shin, et al.
Journal of Clinical Chemistry and Clinical Biochemistry. Zeitschrift Fur Klinische Chemie Und Klinische Biochemie|April 1, 1982
A new high performance liquid chromatography (HPLC) method for the quantitation of strychnine in urine and tissue extractsT Egloff, A Niederwieser, K Pfister, et al.
American Journal of Human Genetics|January 1, 1990
Missense mutations associated with RFLP haplotypes 1 and 4 of the human phenylalanine hydroxylase geneY Okano, T Wang, R C Eisensmith, et al.
Helvetica Paediatrica Acta|February 1, 1978
Nonketotic hyperglycinemia treated with strychnine, a glycine receptor antagonistR Gitzelmann, B Steinmann, A Otten, et al.
Deutsche Medizinische Wochenschrift (1946)|June 24, 1983
[Infusion-associated kidney and liver failure in undiagnosed hereditary fructose intolerance]D E Müller-Wiefel, B Steinmann, M Holm-Hadulla, et al.
European Journal of Pediatrics|July 1, 1996
Liver glycogen synthase deficiency: a rarely diagnosed entityR Gitzelmann, M A Spycher, G Feil, et al.
Journal of Medical Genetics|June 1, 1994
Null alleles of the aldolase B gene in patients with hereditary fructose intoleranceM Ali, G Tunçman, N C Cross, et al.
European Journal of Pediatrics|March 1, 1995
A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasiaA Superti-Furga, G Eich, H U Bucher, et al.
Pageof 12

Showing results (91-100 of 117) with videos related to

Sort By:
Pageof 12
Helvetica Paediatrica Acta|October 1, 1975
Ehlers-Danlos syndrome in two siblings with deficient lysyl hydroxylase activity in cultured skin fibroblasts but only mild hydroxylysine deficit in skinB Steinmann, R Gitzelmann, A Vogel, et al.
The Journal of Biological Chemistry|September 10, 1984
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 imperfectaB Steinmann, V H Rao, A Vogel, et al.
Helvetica Paediatrica Acta|January 1, 1981
A case of fatal hereditary fructose intolerance. Misleading information of formula compositionA von Ruecker, W Endres, Y S Shin, et al.
Journal of Clinical Chemistry and Clinical Biochemistry. Zeitschrift Fur Klinische Chemie Und Klinische Biochemie|April 1, 1982
A new high performance liquid chromatography (HPLC) method for the quantitation of strychnine in urine and tissue extractsT Egloff, A Niederwieser, K Pfister, et al.
American Journal of Human Genetics|January 1, 1990
Missense mutations associated with RFLP haplotypes 1 and 4 of the human phenylalanine hydroxylase geneY Okano, T Wang, R C Eisensmith, et al.
Helvetica Paediatrica Acta|February 1, 1978
Nonketotic hyperglycinemia treated with strychnine, a glycine receptor antagonistR Gitzelmann, B Steinmann, A Otten, et al.
Deutsche Medizinische Wochenschrift (1946)|June 24, 1983
[Infusion-associated kidney and liver failure in undiagnosed hereditary fructose intolerance]D E Müller-Wiefel, B Steinmann, M Holm-Hadulla, et al.
European Journal of Pediatrics|July 1, 1996
Liver glycogen synthase deficiency: a rarely diagnosed entityR Gitzelmann, M A Spycher, G Feil, et al.
Journal of Medical Genetics|June 1, 1994
Null alleles of the aldolase B gene in patients with hereditary fructose intoleranceM Ali, G Tunçman, N C Cross, et al.
European Journal of Pediatrics|March 1, 1995
A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasiaA Superti-Furga, G Eich, H U Bucher, et al.
Pageof 12