Article
Infantile-onset Pompe disease with neonatal debut: A case report and literature review.
Medicine - 1 Dec 2017
Martínez Miriam, Romero Mar García, Guereta Luis García, Cabrera Marta, Regojo Rita M, Albajara Luis, Couce Maria L, Pipaon Miguel Saenz de
Abstract excerpt
RATIONALE: Infantile-onset Pompe disease, also known as glycogen storage disease type II, is a progressive and fatal disorder without treatment. Enzyme replacement therapy with recombinant human acid alpha-glucosidase (GAA) enhances survival; however, the best outcomes have been achieved with early treatment. PATIENT CONCERNS: We report a case of a newborn with infantile-onset Pompe disease diagnosed in the first...
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