Fabry disease (Anderson-Fabry disease) is an X-linked recessive lysosomal storage disorder resulting from deficient activity of lysosomal hydrolase, α-galactosidase A (α-Gal A), which leads to progressive accumulation of globotriaosylceramide (Gb3) in various cells, predominantly endothelial and vascular smooth muscle cells, with clinical manifestations affecting major organs including the central nervous system. The incidence has been estimated to 1 per 40,000-60,000 males and 1 per 117,000 in the general population. Symptoms usually occur during childhood or adolescence, occasionally in middle age (according to the level of the enzyme activity). Life-threatening complications often develop in untreated patients. In classic Fabry disease, ...
Fabry disease (FD) is a rare disorder resulting from mutations of the alpha-Galactosidase A lysosoma...
Fabry disease is an X-linked recessive lysosomal storage disorder caused by a deficiency of α-galact...
Fabry disease (FD) is a lysosomal storage disorder where deficient or completely absent activity of ...
Fabry disease (Anderson-Fabry disease) is an X-linked recessive lysosomal storage disorder resulting...
SUMMARY – Fabry disease (Anderson-Fabry disease) is an X-linked recessive lysosomal sto-rage disorde...
Fabry's disease is a genetic disorder of X-linked inheritance caused by mutations in the alpha galac...
Fabryjeva bolest (Anderson-Fabryjeva bolest) jedna je od najčešćih lizosomskih bolesti nakupljanja (...
Fabry disease (Anderson–Fabry disease) is an X-linked recessive lysosomal storage disorder resulting...
Fabry disease, a rare X-linked lysosomal storage disorder, is caused by deficiency of the enzyme α-g...
Fabry disease is a multisystemic lysosomal storage disorder, inherited in an X-linked manner. It is ...
Fabry disease is an X-linked lysosomal disorder that results from a deficiency of the lysosomal enzy...
A Fabry-kór X-kromoszómához kötött öröklődésmenetű, több szervet érintő, ritka, lysosomalis tárolási...
Fabry disease is a lysosomal storage disorder with an X-linked pattern of inheritance. Fabry disease...
The article is devoted to the rare disease of the lysosomal storage disease group – Fabry’s disease....
Fabrys disease is a lysosomal storage disorder, caused due to mutation in the GLA gene in X-chromoso...
Fabry disease (FD) is a rare disorder resulting from mutations of the alpha-Galactosidase A lysosoma...
Fabry disease is an X-linked recessive lysosomal storage disorder caused by a deficiency of α-galact...
Fabry disease (FD) is a lysosomal storage disorder where deficient or completely absent activity of ...
Fabry disease (Anderson-Fabry disease) is an X-linked recessive lysosomal storage disorder resulting...
SUMMARY – Fabry disease (Anderson-Fabry disease) is an X-linked recessive lysosomal sto-rage disorde...
Fabry's disease is a genetic disorder of X-linked inheritance caused by mutations in the alpha galac...
Fabryjeva bolest (Anderson-Fabryjeva bolest) jedna je od najčešćih lizosomskih bolesti nakupljanja (...
Fabry disease (Anderson–Fabry disease) is an X-linked recessive lysosomal storage disorder resulting...
Fabry disease, a rare X-linked lysosomal storage disorder, is caused by deficiency of the enzyme α-g...
Fabry disease is a multisystemic lysosomal storage disorder, inherited in an X-linked manner. It is ...
Fabry disease is an X-linked lysosomal disorder that results from a deficiency of the lysosomal enzy...
A Fabry-kór X-kromoszómához kötött öröklődésmenetű, több szervet érintő, ritka, lysosomalis tárolási...
Fabry disease is a lysosomal storage disorder with an X-linked pattern of inheritance. Fabry disease...
The article is devoted to the rare disease of the lysosomal storage disease group – Fabry’s disease....
Fabrys disease is a lysosomal storage disorder, caused due to mutation in the GLA gene in X-chromoso...
Fabry disease (FD) is a rare disorder resulting from mutations of the alpha-Galactosidase A lysosoma...
Fabry disease is an X-linked recessive lysosomal storage disorder caused by a deficiency of α-galact...
Fabry disease (FD) is a lysosomal storage disorder where deficient or completely absent activity of ...