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pubmed-article:16498740pubmed:abstractTextFabry disease is a rare X-linked disorder caused by deficient activity of the enzyme alpha-galactosidase A. This produces progressive lysosomal accumulation of globotriaosylceramide throughout the body, leading to organ failure and premature death.lld:pubmed
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pubmed-article:16498740pubmed:articleTitleClinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey.lld:pubmed
pubmed-article:16498740pubmed:affiliationDepartment of Paediatric Endocrinology, Diabetes and Metabolism, Addenbrooke's Hospital, Cambridge, UK. uma.ramaswami@addenbrookes.nhs.uklld:pubmed
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