2004
DOI: 10.1016/j.semnephrol.2004.06.024
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Chronic renal failure, dialysis, and renal transplantation in Anderson-Fabry disease

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Cited by 16 publications
(15 citation statements)
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“…So far, over 600 α-gal A gene mutations causing FD have been described (Human Gene Mutation Database, http:// www.hgmd.cf.ac.uk). Different gene mutations might explain different clinical pictures but, at present time, genotype-phenotype correlations are premature because mutations are private [2]. The α-gal A protein contains 429 amino acids that are important for enzymatic activity.…”
Section: Discussionmentioning
confidence: 99%
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“…So far, over 600 α-gal A gene mutations causing FD have been described (Human Gene Mutation Database, http:// www.hgmd.cf.ac.uk). Different gene mutations might explain different clinical pictures but, at present time, genotype-phenotype correlations are premature because mutations are private [2]. The α-gal A protein contains 429 amino acids that are important for enzymatic activity.…”
Section: Discussionmentioning
confidence: 99%
“…The second clinical phase is characterized by renal involvement (microalbuminuria and subsequent proteinuria, lipiduria with Malta cross crystals in the urine sediment, and impairment in the urine concentration and diluting capacity). In the third clinical phase severe renal damage is present with late involvement of cardiovascular and cerebrovascular systems [2]. In this family, there were 3 heterozygous females carriers.…”
Section: Discussionmentioning
confidence: 99%
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“…Among palliative approaches, the introduction of renal replacement therapy (ie, dialysis and renal transplant) for ESRD during the period preceding enzyme therapy resulted in an increased survival by a decade or more (Sessa et al 2004). A few patients have had implantable pacemakers and defibrillators for bradycardia and arrhythmias, respectively; but the number of lives saved through these measures has not been as closely examined (Shah et al 2005).…”
Section: Palliative Measures and Adjunctive Therapiesmentioning
confidence: 99%