Results 21 to 30 of about 57,006,697 (123)
Guía clínica de la enfermedad de pompe de inicio tardío [PDF]
, 2012 Hasta 2006, la enfermedad de Pompe o glucogenosis tipo II era una enfermedad incurable y con tratamiento meramente paliativo. El desarrollo de la terapia de sustitución con la enzima α-glucosidasa recombinante humana ha constituido el primer tratamiento ...
Gutiérrez-Rivas, E. +12 more
core +3 more sources
Nuevas Aproximaciones Terapéuticas para la Enfermedad de Pompe [PDF]
, 2015 La enfermedad de Pompe es una enfermedad autosómica recesiva de depósito lisosomal en la que la enzima alfa-glucosidasa ácida (GAA) está deficiente o ausente. La deficiencia lisosomal de esta enzima supone un acúmulo de glucógeno en múltiples tejidos, siendo el músculo cardiaco y el esquelético los más afectados.
Justo Sanz, Raúl
core +3 more sources
Acta Neurológica Colombiana, 2011 La enfermedad de Pompe (EP) es debida a la deficiencia de la enzima lisosomal maltasa ácida o alfa glucosidasa ácida (AGA) y se manifiesta clínicamente como una miopatía. La cantidad y calidad de la enzima determinan la variedad de presentación.
Blair Ortiz Giraldo +2 more
doaj +4 more sources
Pompe disease: a lesson to learn. [PDF]
Arch Cardiol MexPavón-Flores CA +2 more
europepmc +3 more sources
[Late onset Pompe disease: an analysis of 19 patients from Mexico]. [PDF]
Rev Neurol, 2022 Pompe disease (PD) is a rare metabolic myopathy with an ample and heterogeneous clinical spectrum, particularly late onset PD (LOPD), which is characterized by appearance at older age and slower disease progression, leading to diagnostic confirmation difficulty and delay.To describe the genotype and clinical characteristics of Mexican patients with ...
Sánchez-Sánchez LM +18 more
europepmc +3 more sources
Búsqueda de biomarcadores y estudio de mecanismos fisiopatológicos en la enfermedad de Pompe [PDF]
, 2022 Universitat Autònoma de Barcelona.
Carrasco Rozas, Ana, Carrasco-Rozas, Ana
openaire +3 more sources
Estudio prospectivo clínico y radiológico de la enfermedad de Pompe del adulto [PDF]
, 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 ...
Figueroa Bonaparte, Sebastián Ariel +1 more
openaire +2 more sources
Neurology Perspectives, 2022 Introduction: The Limb Girdle Muscular Dystrophies (LGMD) are a heterogeneous group of genetically inherited myopathies characterized by progressive weakness of the limb-girdle muscles.
M. Schiava +10 more
doaj +1 more source
[Juvenile Pompe disease: Undescribed genotype. First report in Quintana Roo]. [PDF]
Rev Med Inst Mex Seguro Soc, 2023 Background: Pompe disease (PD) is a rare autosomal recessive genetic disorder (1 in 14,000) which affects the synthesis of acid alpha-glucosidase (AGA), leading to intralysosomal glycogen accumulation in muscle tissue. The clinical presentation is heterogeneous, with variable degrees of involvement and progression, classifiable based on the age of ...
Flores-Gonzale A +5 more
europepmc +3 more sources
Intervención fisioterapéutica en niños con la enfermedad de Pompe [PDF]
, 2022 : The research project was developed in the type of bibliographic review, it consisted in the compilation of scientific documents of great magnitude regarding the subject of physiotherapeutic intervention in children with Pompe disease, based mainly ...
Peralta Bautista, Melany Anais
core +1 more source