Results 61 to 70 of about 135 (96)

First report of PURA syndrome in a Colombian patient with de novo missense variant c.692T>C (p.Phe231Ser) [PDF]

Biomedica
Cerón SM, Pérez DA, Montaño JH, Acosta MA.   +3 more
europepmc   +1 more source

Ojo y piel [PDF]

EMC - Dermatología, 2006
Michel J, Thuret G.
europepmc   +1 more source

Epidemiology and molecular characterization of adult genetic myopathies in a southeastern region of Spain. [PDF]

Rev Neurol
Ros-Arlanzón P, Pelegrín-Durá L, Aledo-Sala C, Moreno-Navarro L, Vaamonde-Esteban Y, Muñoz-Ambit A, Sánchez-Pérez R, Díaz-Marín C.   +7 more
europepmc   +1 more source

¿Puede ser donante de órganos un paciente con enfermedad de Pompe?

Nefrología, 2014
Morales-Ruiz, Enrique, Gutiérrez-Martínez, Eduardo, Cordero, Carolina, González-Monte, Esther, Hernández-Martínez, Eduardo, Praga-Terente, Manuel, Andrés-Belmonte, Amado   +6 more
openaire   +4 more sources

Genetic epidemiology of single gene defects in Chile. [PDF]

J Med Genet, 1994
Cruz-Coke R, Moreno RS.
europepmc   +1 more source

Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease. [PDF]

Nutrients
de Las Heras J, Almohalla C, Blasco-Alonso J, Bourbon M, Couce ML, de Castro López MJ, García Jiménez MC, Gil Ortega D, González-Diéguez L, Meavilla S, Moreno-Álvarez A, Pastor-Rosado J, Sánchez-Pintos P, Serrano-Gonzalo I, López E, Valdivielso P, Yahyaoui R, Quintero J.   +17 more
europepmc   +1 more source

In vitro expanded human CD4+CD25+ regulatory T cells suppress effector T cell proliferation. [PDF]

Clin Immunol, 2005
Earle KE, Tang Q, Zhou X, Liu W, Zhu S, Bonyhadi ML, Bluestone JA.   +6 more
europepmc   +1 more source

Enzyme replacement therapy in infants and very young children with Gaucher disease using velaglucerase alfa: a single-center experience. [PDF]

Front Pediatr
Goker-Alpan O, Ivanova MM, Pathak R, Wright E.   +3 more
europepmc   +1 more source

Estudio prospectivo clínico y radiológico de la enfermedad de Pompe del adulto

, 2019
Enzyme replacement therapy has shown to be effective for late onset Pompe disease (LOPD). The discovery of biomarkers useful for monitoring disease progression is one of the priority research topics in Pompe disease. Muscle MRI could be one posible test but the correlation between muscle MRI and muscle strength and function has been only partially ...
openaire   +1 more source