Resultats de la cerca - R Gitzelmann

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  1. 1
    Hereditary Galactokinase Deficiency, a Newly Recognized Cause of Juvenile Cataracts31

    Hereditary Galactokinase Deficiency, a Newly Recognized Cause of Juvenile Cataracts31 per R Gitzelmann

    Publicat 1967
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  2. 2
    Hepatic glycogen synthetase deficiency. Definition of syndrome from metabolic and enzyme studies on a 9-year-old girl.

    Hepatic glycogen synthetase deficiency. Definition of syndrome from metabolic and enzyme studies on a 9-year-old girl. per A Aynsley‐Green, D. H. Williamson, R Gitzelmann

    Publicat 1977
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  3. 3
    Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen.

    Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen. per Andrea Superti‐Furga, E Gugler, R Gitzelmann, B Steinmann

    Publicat 1988
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  4. 4
    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 imperfecta.

    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 imperfecta. per B Steinmann, V H Rao, A. Vogel, Peter Brückner, R Gitzelmann, Peter H. Byers

    Publicat 1984
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  5. 5
    Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.

    Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. per Marju Orho, N. U. Bosshard, Neil R.M. Buist, R Gitzelmann, A Aynsley‐Green, Peter Blümel, Mary C. Gannon, Frank Q. Nuttall, L. Groop

    Publicat 1998
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