LaxmikantRamkumarsingh Tomar, AjinkyaAshok Sonambekar, Sambav Gupta, Nikhil Gupta
Abstract
Fabry's disease is an X-linked multisystem disorder due to the deficiency of lysosomal enzyme α-galactosidase A, leads to accumulation of sphingolipids throughout the body. Key causes for premature death include cardiac and renal. Here, we present important clinical findings of such rare case.
A significance statement is not available in the OpenAlex record.
A contribution statement is not available in the OpenAlex record.
Method details are not available in the OpenAlex metadata.
Findings are not separately available in the OpenAlex metadata.
Limitations are not available in the OpenAlex metadata.
Application details are not available in the OpenAlex metadata.
Fabry's disease is an X-linked multisystem disorder due to the deficiency of lysosomal enzyme α-galactosidase A, leads to accumulation of sphingolipids throughout the body. Key causes for premature death include cardiac and renal. Here, we present important clinical findings of such rare case.
Key concepts: Fabry disease, Sphingolipid, Disease, Lysosomal storage disease, Fabry's disease, Enzyme replacement therapy, Medicine, Globotriaosylceramide