Results 111 to 120 of about 59,006,072 (172)

[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

Enfermedad de Fabry: : la importancia de la terapia de reemplazo enzimático (TRE), tratar rápida y eficazmente

, 2014
Fabry Disease is a lysosomal disorder due to the absence or deficiency of the Alpha galactosidase A enzyme that causes a pathological accumulation of glycosphingolipids mainly in the endothelial cells, vascular smooth muscle cells and podocytes among ...
Schenone, Andrea, Politei, Juan Manuel, Antongiovanni, Norberto, Cabrera, Gustavo, Cusumano, Ana María, Szlago, Marina   +5 more
core  

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

Enfermedad de Fabry - compromiso renal

Medwave, 2004
openaire   +1 more source

Left ventricular hypertrophy. Is there only hypertrophic cardiomyopathy? [PDF]

Arch Cardiol Mex
Lluch-Requerey C, Montilla-Garrido MA, Morgado-García-Polavieja JI, Gragera-Martínez Á, Gómez-Menchero A.   +4 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

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

Nefropatía por enfermedad de Fabry

Nefrología, 2011
openaire   +1 more source

Enfermedad de Fabry: espectro clínico de los angioqueratomas

Actas Dermo-Sifiliográficas, 2013
R.M. Guinovart, I. Bielsa, G. Pintos-Morell, C. Ferrándiz   +3 more
openaire   +1 more source

Enfermedad de Fabry - revisión general

Medwave, 2004
openaire   +1 more source