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Proceedings of the National Academy of Sciences of the United States of America
|
June 1, 1979
Fetal and adult albumins are indistinguishable by immunological and physicochemical criteria
N Gitzelmann-Cumarasamy, R Gitzelmann, K J Wilson, et al.
Klinische Monatsblatter Fur Augenheilkunde
|
December 1, 1986
[Infantile cataract, hypertrophic cardiomyopathy and lactic acidosis following minor muscular exertion--a little known metabolic disease]
S Lalive d'Epinay, S Rampini, U Arbenz, et al.
Helvetica Paediatrica Acta
|
January 1, 1987
[Mucopolysaccharidosis 6-A (Maroteaux-Lamy disease): comparison of clinical and pathologico-anatomic findings in a 27-year-old patient]
C Keller, J Briner, J Schneider, et al.
Human Genetics
|
March 7, 1998
Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote
R Vervoort, R Gitzelmann, N Bosshard, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology
|
February 1, 1979
Abnormal collagen fibril structure in the gravis form (type I) of Ehlers-Danlos syndrome
A Vogel, K A Holbrook, B Steinmann, et al.
Helvetica Paediatrica Acta
|
November 1, 1978
Unusually mild course of beta-glucuronidase deficiency in two brothers (mucopolysaccharidosis VII)
R Gitzelmann, U N Wiesmann, M A Spycher, et al.
Biochemical Genetics
|
April 1, 1991
Normal expression of thymidine kinase and O6-methylguanine-DNA methyltransferase in cultured fibroblasts from individuals with hereditary galactokinase deficiency
C Stephenson, M Brivet, M Gautier, et al.
Neurology
|
February 1, 1993
Nonketotic hyperglycinemia: clinical and electrophysiologic effects of dextromethorphan, an antagonist of the NMDA receptor
B Schmitt, B Steinmann, R Gitzelmann, et al.
Schweizerische Medizinische Wochenschrift
|
May 4, 1996
[Adult form of GM2-gangliosidosis: a man and 2 sisters with hexosaminidase-A and -B deficiency (Sandhoff disease) and literature review]
H Schnorf, N U Bosshard, R Gitzelmann, et al.
European Journal of Clinical Investigation
|
October 1, 1977
The brush border membrane in hereditary sucrase-isomaltase deficiency: abnormal protein pattern and presence of immunoreactive enzyme
A U Freiburghaus, R Dubs, B Hadorn, et al.
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Showing results (81-90 of 117) with videos related to
Sort By:
Page
of 12
Proceedings of the National Academy of Sciences of the United States of America
|
June 1, 1979
Fetal and adult albumins are indistinguishable by immunological and physicochemical criteria
N Gitzelmann-Cumarasamy, R Gitzelmann, K J Wilson, et al.
Klinische Monatsblatter Fur Augenheilkunde
|
December 1, 1986
[Infantile cataract, hypertrophic cardiomyopathy and lactic acidosis following minor muscular exertion--a little known metabolic disease]
S Lalive d'Epinay, S Rampini, U Arbenz, et al.
Helvetica Paediatrica Acta
|
January 1, 1987
[Mucopolysaccharidosis 6-A (Maroteaux-Lamy disease): comparison of clinical and pathologico-anatomic findings in a 27-year-old patient]
C Keller, J Briner, J Schneider, et al.
Human Genetics
|
March 7, 1998
Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote
R Vervoort, R Gitzelmann, N Bosshard, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology
|
February 1, 1979
Abnormal collagen fibril structure in the gravis form (type I) of Ehlers-Danlos syndrome
A Vogel, K A Holbrook, B Steinmann, et al.
Helvetica Paediatrica Acta
|
November 1, 1978
Unusually mild course of beta-glucuronidase deficiency in two brothers (mucopolysaccharidosis VII)
R Gitzelmann, U N Wiesmann, M A Spycher, et al.
Biochemical Genetics
|
April 1, 1991
Normal expression of thymidine kinase and O6-methylguanine-DNA methyltransferase in cultured fibroblasts from individuals with hereditary galactokinase deficiency
C Stephenson, M Brivet, M Gautier, et al.
Neurology
|
February 1, 1993
Nonketotic hyperglycinemia: clinical and electrophysiologic effects of dextromethorphan, an antagonist of the NMDA receptor
B Schmitt, B Steinmann, R Gitzelmann, et al.
Schweizerische Medizinische Wochenschrift
|
May 4, 1996
[Adult form of GM2-gangliosidosis: a man and 2 sisters with hexosaminidase-A and -B deficiency (Sandhoff disease) and literature review]
H Schnorf, N U Bosshard, R Gitzelmann, et al.
European Journal of Clinical Investigation
|
October 1, 1977
The brush border membrane in hereditary sucrase-isomaltase deficiency: abnormal protein pattern and presence of immunoreactive enzyme
A U Freiburghaus, R Dubs, B Hadorn, et al.
Page
of 12