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Fabry disease: 19 novel alterations in the alpha-galactosidase A gene in Brazilian families

✍ Scribed by Turaça, Lauro; Pessoa, Juliana Gilbert; Motta, Fabiana Louise; Kyosen, Sandra Obikawa; Rojas, Maria Verônica Munhõz; Muller, Karen Barbosa; Lourenço, Charles Marques; Marques, Wilson Junior; D'Almeida, Vânia; Martins, Ana Maria; Pesquero, João Bosco


Book ID
123147725
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
63 KB
Volume
108
Category
Article
ISSN
1096-7192

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The enzyme deficiency causes the intralysosomal accumulation of glycosphingolipids. The affected hemizygotes manifest acroparethesis, angiokeratoma, hypohidrosis, corneal opacities, and progressive vascular diseases of the kidney, heart, and brain. The human a-Gal A cDNA (Bishop et al., 1986) and ge