Article
[Late onset Pompe disease: an analysis of 19 patients from Mexico].
Revista de neurologia - 1 Sept 2022
Sánchez-Sánchez L M, Martinez-Montoya V, Sandoval-Pacheco R, Torres-Octavo B, Anaya-Castro D M, Padilla-de la Torre O, Arellano-Valdez C A, Ávila-Rejón C A, Aguilar-Juárez P A, Espino-Pluma M, González-Santillanes Cruz A, Kazakova E, Martinez-Segovia R I, Olmos-Morfin D, Radillo-Díaz P F, Solís-Sánchez I, Vázquez Del Mercado-Espinosa M, Villarroel-Cortés C E, Velarde-Félix J S
Abstract excerpt
INTRODUCTION: 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. AIM: To describe the genotype and clinical characteristics of Mexican patients with LOPD. MATERIAL AND METHODS: Clinical...
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