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R Gitzelmann

Showing results (101-110 of 117) with videos related to

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Journal of Inherited Metabolic Disease|May 19, 1998
Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency)R Barone, H Carchon, E Jansen, et al.
European Journal of Pediatrics|January 1, 1993
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 DNAA Superti-Furga, E Schoenle, P Tuchschmid, et al.
Biochemical and Biophysical Research Communications|July 30, 1997
Autosomal recessive liver phosphorylase kinase deficiency caused by a novel splice-site mutation in the gene encoding the liver gamma subunit (PHKG2)E A van Beurden, M de Graaf, U Wendel, et al.
Veterinary Pathology|July 1, 1994
Feline mucopolysaccharidosis VII due to beta-glucuronidase deficiencyR Gitzelmann, N U Bosshard, A Superti-Furga, et al.
Human Genetics|May 14, 1999
Molecular diagnosis of type 1c glycogen storage diseaseA R Janecke, N U Bosshard, E Mayatepek, et al.
Human Genetics|December 1, 1996
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasiaA Rossi, H J van der Harten, F A Beemer, et al.
Veterinary Pathology|January 1, 1996
Spontaneous mucolipidosis in a cat: an animal model of human I-cell diseaseN U Bosshard, M Hubler, S Arnold, et al.
Pediatric Research|April 1, 1985
Prenatal diagnosis of hereditary tyrosinemia by determination of fumarylacetoacetase in cultured amniotic fluid cellsE A Kvittingen, B Steinmann, R Gitzelmann, et al.
American Journal of Human Genetics|May 1, 1989
Haplotype distribution of the human phenylalanine hydroxylase locus in Scotland and SwitzerlandS E Sullivan, S D Moore, J M Connor, et al.
The Journal of Clinical Investigation|August 6, 1998
Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0M Orho, N U Bosshard, N R Buist, et al.
Pageof 12

Showing results (101-110 of 117) with videos related to

Sort By:
Pageof 12
Journal of Inherited Metabolic Disease|May 19, 1998
Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency)R Barone, H Carchon, E Jansen, et al.
European Journal of Pediatrics|January 1, 1993
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 DNAA Superti-Furga, E Schoenle, P Tuchschmid, et al.
Biochemical and Biophysical Research Communications|July 30, 1997
Autosomal recessive liver phosphorylase kinase deficiency caused by a novel splice-site mutation in the gene encoding the liver gamma subunit (PHKG2)E A van Beurden, M de Graaf, U Wendel, et al.
Veterinary Pathology|July 1, 1994
Feline mucopolysaccharidosis VII due to beta-glucuronidase deficiencyR Gitzelmann, N U Bosshard, A Superti-Furga, et al.
Human Genetics|May 14, 1999
Molecular diagnosis of type 1c glycogen storage diseaseA R Janecke, N U Bosshard, E Mayatepek, et al.
Human Genetics|December 1, 1996
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasiaA Rossi, H J van der Harten, F A Beemer, et al.
Veterinary Pathology|January 1, 1996
Spontaneous mucolipidosis in a cat: an animal model of human I-cell diseaseN U Bosshard, M Hubler, S Arnold, et al.
Pediatric Research|April 1, 1985
Prenatal diagnosis of hereditary tyrosinemia by determination of fumarylacetoacetase in cultured amniotic fluid cellsE A Kvittingen, B Steinmann, R Gitzelmann, et al.
American Journal of Human Genetics|May 1, 1989
Haplotype distribution of the human phenylalanine hydroxylase locus in Scotland and SwitzerlandS E Sullivan, S D Moore, J M Connor, et al.
The Journal of Clinical Investigation|August 6, 1998
Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0M Orho, N U Bosshard, N R Buist, et al.
Pageof 12