Enzyme replacement therapy for Anderson-Fabry disease: a complementary overview of a Cochrane publication through a linear regression and a pooled analysis of …
Background Anderson-Fabry disease (AFD) is an X-linked recessive inborn error of
glycosphingolipid metabolism caused by a deficiency of alpha-galactosidase A. Renal …
glycosphingolipid metabolism caused by a deficiency of alpha-galactosidase A. Renal …
Clinical features, diagnosis, and management of patients with Anderson-Fabry cardiomyopathy
H Yogasundaram, D Kim, O Oudit… - Canadian Journal of …, 2017 - Elsevier
Anderson-Fabry disease (AFD) is an X-linked recessive, multisystem disease of lysosomal
storage. A mutation in the gene encoding the hydrolase enzyme α-galactosidase A results in …
storage. A mutation in the gene encoding the hydrolase enzyme α-galactosidase A results in …
Afectación de pacientes con enfermedad de fabry sin expresión fenotípica: valor diagnóstico de los biomarcadores
J Sánchez Quiñones - 2017 - dspace.umh.es
La enfermedad de Fabry (EF) es una enfermedad rara de depósito lisosomal, de base
genética y con un patrón de herencia ligado al cromosoma X. En esta entidad, se produce …
genética y con un patrón de herencia ligado al cromosoma X. En esta entidad, se produce …
Hereditary renal disease in the Norwegian population, with a focus on Fabry disease
R Skrunes - 2017 - bora.uib.no
Background: Clinical experience and studies suggest that end stage renal disease (ESRD)
without known Mendelian origins may aggregate in families, and increased risk of death has …
without known Mendelian origins may aggregate in families, and increased risk of death has …
Echocardiographic role in the detection and monitoring of Anderson-Fabry disease.
T Mikulandra, M Roguljić, A Erak - Cardiologia Croatica, 2017 - search.ebscohost.com
Anderson-Fabry disease is a hereditary defect of the enzyme alpha-galactosidase,
characterized by the accumulation of glycosphingolipids in lysosomes. Patients with Fabry …
characterized by the accumulation of glycosphingolipids in lysosomes. Patients with Fabry …