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Infantile-onset Pompe disease in seven Mexican children.

Gaceta medica de Mexico - 1 Jan 2022

Sánchez-Sánchez Luz M, Ávila-Rejón Carmen, Díaz-Martínez Rubicel, Díaz-Murillo Brenda, Kazakova Ekaterina, López-Valdez Jaime, Martínez-Montoya Valentina, Olaiz-Urbina Julio, Radillo-Díaz Pablo, Ricárdez-Marcial Edgar, Sandoval-Pacheco Roberto, Torres-Octavo Benjamín, Vergara-Sánchez Imelda

Abstract excerpt

INTRODUCTION: Pompe disease (PD) is a rare form of metabolic myopathy; the classic infantile presentation is severe, with death occurring before reaching one year of life, and the non-classical form is of slower progression and survival can exceed one year. OBJECTIVE: To describe the genotype and characteristics of Mexican patients with infantile-onset PD. METHODS: Seven patients with PD confirmed by enzymatic...

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PMID: 36572041
DOI: 10.24875/GMM.M22000694

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