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Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease.
BACKGROUND Fabry's disease, lysosomal alpha-galactosidase A deficiency, results from the progressive accumulation of globotriaosylceramide and related glycosphingolipids. Affected patients haveExpand
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High incidence of later-onset fabry disease revealed by newborn screening.
The classic phenotype of Fabry disease, X-linked alpha -galactosidase A (alpha -Gal A) deficiency, has an estimated incidence of approximately 1 in 50,000 males. The recent recognition of later-onsetExpand
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Recommendations for the Diagnosis and Treatment of the Acute Porphyrias
Key Summary Points Early Diagnosis of Acute Porphyria Consider in all adults with unexplained symptoms seen in acute porphyrias (Table 2); certain clinical features are suggestive: women ofExpand
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Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease.
Cholesteryl ester storage disease (CESD) is caused by deficient lysosomal acid lipase (LAL) activity, predominantly resulting in cholesteryl ester (CE) accumulation, particularly in the liver,Expand
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A pharmacogenetic versus a clinical algorithm for warfarin dosing.
BACKGROUND The clinical utility of genotype-guided (pharmacogenetically based) dosing of warfarin has been tested only in small clinical trials or observational studies, with equivocal results. Expand
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Acid sphingomyelinase deficient mice: a model of types A and B Niemann–Pick disease
Types A and B Niemann–Pick disease (NPD) result from the deficient activity of acid sphingomyelinase (ASM). An animal model of NPD has been created by gene targeting. In affected animals, the diseaseExpand
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Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease.
Fabry disease, an inherited deficiency of the lysosomal enzyme alpha-galactosidase A, causes progressive intralysosomal accumulation of globotriaosylceramide (GL-3) and premature death from renal,Expand
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Fabry Disease, an Under-Recognized Multisystemic Disorder: Expert Recommendations for Diagnosis, Management, and Enzyme Replacement Therapy
Fabry disease is an X-linked recessive lysosomal storage disorder that is caused by the deficient activity of -galactosidase A (-Gal A, also termed ceramide trihexosidase) (1, 2) and the resultantExpand
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Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel
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Agalsidase-Beta Therapy for Advanced Fabry Disease
Context Fabry disease is an X-linked storage disorder characterized by deficient lysosomal enzyme activity and excessive deposition of glycosphingolipids in vascular endothelial cells. ContributionExpand
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