Results 71 to 80 of about 189 (142)

Enzyme replacement therapy in Fabry Disease: the importance of dose

Revista de Nefrología, Diálisis y Trasplante, 2017
Fabry disease is a rare X-linked inherited disorder due to deficient or absent lysosomal α-galactosidase A activity, resulting in an excessive glycosphingolipid deposit, mainly globotriaosylceramide (gl3) and mortality due renal, cardiac and neurological
Juan Manuel Politei, Andrea B. Schenone, Consuelo Durand, Alberto Ortiz   +3 more
doaj  

Enzyme Replacement Therapy in Pregnant Women with Fabry Disease: A Case Series. [PDF]

JIMD Rep, 2019
Fernández P, Fernández SO, Gonzalez JGM, Fernández T, Fernández CC, Fernández SP.   +5 more
europepmc   +1 more source

CONTROVERSIAS EN LA INDICACIÓN DE TRATAMIENTO DE PACIENTES CON ENFERMEDAD DE FABRY EN LA ARGENTINA

Revistas Argentina de Medicina, 2018
Introducción. Los criterios de indicación de tratamiento en enfermedades lisosomales son motivo de controversia. La detección temprana de síntomas posibilitaría un inicio temprano de tratamiento y mejoraría el pronóstico de pacientes afectados, aunque ...
Sebastián P.A. Jaurretche, Norberto Antongiovanni, Fernando Perretta   +2 more
doaj  

Expert consensus: first multidisciplinary consensus on nuclear cardiology. [PDF]

Arch Cardiol Mex
Vidal M, Gallego C, Roncancio G, Angarita E, Cárdenas R, Dueñas K, García JC, González G, Granados U, Londoño JL, León JDL, López N, Marín V, Martínez É, Murgueitio R, Mejía A, Rodríguez MJ, Silva E, Uribe LG.   +18 more
europepmc   +1 more source

The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective. [PDF]

Mol Genet Metab, 2020
Elmonem MA, Belanger-Quintana A, Bordugo A, Boruah R, Cortès-Saladelafont E, Endrakanti M, Giraldo P, Grünert SC, Gupta N, Kabra M, Knerr I, Krämer J, Kuster A, Levtchenko E, Ngu LH, Rovira-Remisa MM, Sass JO, Sykut-Cegielska J, Tummolo A, van den Heuvel LP.   +19 more
europepmc   +1 more source

La enfermedad de Fabry y la microbiota intestinal

, 2019
Peer ...
Aguilera-Correa, John-Jairo, Sáez Martínez, Esteban F., Sánchez-Niño, María Dolores, Martínez-Cuesta, M. Carmen, Peláez, Carmen, Esteban, Jaime, Requena, Teresa   +6 more
openaire   +1 more source

[Rare diseases in a medical genetics service of population with social security]. [PDF]

Rev Med Inst Mex Seguro Soc
Jiménez-Pérez B, Juárez-Melchor D, Guzmán-Santiago AA, Sánchez-Ortega A, Vera-Loaiza A, Flores-Martínez C, Aguilar-Cózatl I.   +6 more
europepmc   +1 more source

Ophthalmic genetics in South America. [PDF]

Am J Med Genet C Semin Med Genet, 2020
Daich Varela M, Moya R, Schlottmann PG, Hufnagel RB, Arberas C, Fernández FM, Inga ME, Lores J, Pachajoa H, Prada CE, Sallum JMF.   +10 more
europepmc   +1 more source

Synergistic effects of vedolizumab and JAK 1,2,3 inhibitors in Crohn's disease: insights from a systems biology and artificial intelligence-based approach. [PDF]

Front Immunol
Marín-Jiménez I, Sierra-Ausín M, Letosa-Abián T, Aparicio J, Montoto-Otero C, Sánchez-Ramón S.   +5 more
europepmc   +1 more source

Enfermedad de Fabry - compromiso renal

Medwave, 2004
openaire   +1 more source