Autor:
Varas M, C.
Gómez, G.
Morales T, M.
Molt C, F.
Cabello A, J. F.
Alcántara P, A.
Downey C, P.
Barría M, C.
Álvarez C, M.
Villarroel S, C.
Ponce M, J. C.
Cortés M, F.
Moraga U, S.
Peredo O, P.
Fabry's disease is an X-linked recessive inborn error of metabolism of glycosphingolipids, caused by the deficiency of the lisosomal enzyme alpha-galactosidase. It is a rare disease with an estimated incidence rate of approximately 1:80.000 to 1:117,000 births in the general population. Recently,...
Enlace original:
https://repositorio.uc.cl/handle/11534/27290
Varas M, C.
,
Gómez, G.
,
Morales T, M.
,
Molt C, F.
,
Cabello A, J. F.
,
Alcántara P, A.
,
Downey C, P.
,
Barría M, C.
,
Álvarez C, M.
,
Villarroel S, C.
,
Ponce M, J. C.
,
Cortés M, F.
,
Moraga U, S.
,
Peredo O, P.
,
[Guía clínica: consenso para Chile en enfermedad de Fabry]
,
Guía clínica: consenso para Chile en enfermedad de Fabry
