Comprehensive clinical evaluation of a large Spanish family with Anderson-Fabry disease, novel GLA mutation and severe cardiac phenotype. [electronic resource]
Producer: 20150102Description: 497-504 p. digitalISSN:- 1578-8989
- Adult
- Age of Onset
- Amino Acid Substitution
- Arrhythmias, Cardiac -- etiology
- Brain -- pathology
- Enzyme Replacement Therapy
- Eye Diseases -- etiology
- Fabry Disease -- complications
- Female
- Genotype
- Heart Arrest -- etiology
- Heart Transplantation
- Humans
- Hypertrophy, Left Ventricular -- etiology
- Kidney -- pathology
- Kidney Diseases, Cystic -- etiology
- Kidney Failure, Chronic -- etiology
- Kidney Transplantation
- Male
- Middle Aged
- Mutation, Missense
- Myocardium -- pathology
- Pedigree
- Point Mutation
- Spain -- epidemiology
- alpha-Galactosidase -- genetics
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Publication Type: Case Reports; Journal Article
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