Comparative Study of Structural Changes Caused by Different Substitutions at the Same Residue on α-Galactosidase A
Author:
Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
Reference27 articles.
1. Desnick RJ, Ioannou YA, Eng CM (2001) α-Galactosidase A deficiency: Fabry disease. In: Scriver CR, Sly WA, Beaudet A L, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease, eighth edition. New York: McGraw-Hill. pp. 3733–3774.
2. Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome;CS Nance;Arch Neurol,2006
3. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males;KD MacDermot;J Med Genet,2001
4. An atypical variant of Fabry's disease in men with left ventricular hypertrophy;S Nakao;New Engl J Med,2001
5. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females;KD MacDermot;J Med Genet,2001
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