Background Fabry disease (FD) is an inherited lysosomal storage disorder, leading to
multisystemic manifestations and causing significant morbidity and mortality. Objective The …

Abstract Purpose of Review To provide a comprehensive update on the role of genetic
testing for the evaluation of kidney transplant recipient and living donor candidates. Recent …

Fabry disease is an X-linked inheritable lysosomal storage disease caused by various
mutations of the galactosidase α gene resulting in α-galactosidase deficiency. Chronic …

Monogenic kidney diseases are involved in up to 15% of end-stage kidney diseases
(ESKDs) in adults, and in 70% of pediatric patients. When these disorders lead to kidney …

Despite recent advances, there is still much to be learned about the pathogenesis of Fabry
disease. The categorization of GLA gene missense mutations has been complicated by the …

Background and Objectives: Inherited metabolic disorders (IMDs), primarily cystinosis, Fabry
disease, and methylmalonic acidemia (MMA), are genetic conditions that typically result in …

Заключение. тХПН—нередкое осложнение БФ, ассоциированное с неблагоприятным
прогнозом. Скрининг в диализных отделениях–эффективный способ выявления …

Fabry disease is a rare X-linked lysosomal storage disorder due to mutations in the GLA
gene causing the deficiency of α-galactosidase A (α-gal A). Several systems are involved in …