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M. López Rodríguez
Grupo México
4Publications
1H-index
5Citations
Publications 4
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Abstract Fabry disease is an X-linked inborn disease caused by deficit of alpha-galactosidase A. This results in accumulation of glycosphingolipids in all cells and tissues. All males should receive enzyme replacement treatment in case of very low or undetectable levels of alpha-galactosidase A. Female carriers and males with marginally levels of alpha-galactosidase A should be treated in case of renal, neurologic o cardiac manifestations. There are two intravenous formulations of human recombin...
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#1A. Riera-Mestre (University of Barcelona)H-Index: 1
#2J.M. Mora Luján (Grupo México)H-Index: 1
Last.M. López Rodríguez (Grupo México)H-Index: 1
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espanolIntroduccion La telangiectasia hemorragica hereditaria (HHT, por sus siglas en ingles) es una enfermedad minoritaria con herencia autosomica dominante que provoca una afectacion vascular sistemica. Material y metodo Tras la elaboracion de un registro nacional espanol multicentrico, denominado RiHHTa, se describen las principales manifestaciones clinicas y procedimientos diagnosticos de los primeros pacientes introducidos. Resultados Se han introducido datos de 141 pacientes, de los que 91...
4 CitationsSource
Resumen La enfermedad de Fabry es una enfermedad ligada al cromosoma X causada por un deficit de alfa-galactosidasa A. Esto da como resultado la acumulacion de glicoesfingolipidos en todas las celulas y tejidos. Todos los varones deben tratarse con reemplazo enzimatico en caso de presentar niveles muy bajos o indetectables de alfa-galactosidasa A. Las mujeres portadoras y los varones con niveles minimos de alfa-galactosidasa A deben tratarse si existe afectacion renal, neurologica o cardiaca. Pa...
Source
#1A. Riera-Mestre (University of Barcelona)H-Index: 1
#2J.M. Mora Luján (Grupo México)H-Index: 1
Last.M. López Rodríguez (Grupo México)H-Index: 1
view all 10 authors...
Abstract Introduction Hereditary hemorrhagic telangiectasia (HHT) is a rare disease with autosomal dominant inheritance that causes systemic vascular affectation. Material and method After development a multicentric Spanish national registry, called RiHHTa, main clinical manifestations and diagnostic procedures of the first patients introduced are described. Results 141 patients were included, of which 91 (64.5%) were women. The mean age at diagnosis was 42 years. Mutations in the ACVRL1 gene pr...
1 CitationsSource
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