An uncommon case of neonatal asphyxia associated with infantile-onset Pompe disease

An uncommon case of neonatal asphyxia associated with infantile-onset Pompe disease

Abstract Background Pompe disease, also known as glycogenosis type II or acid maltase deficiency, is an autosomal recessive disease caused by a deficiency of alpha-glucosidase. The severity depends mainly on the type of mutation, which in turn determines early or late onset; therapy modifies the out...

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Bibliographic Details
Main Authors: Francesco Leo, Luca Barchi, Giulia Russo, Eleonora Balestri, Elena Chesi, Francesco Di Dio, Livia Garavelli, Lorenzo Iughetti, Giancarlo Gargano
Format: Article
Language:English
Published: BMC 2025-08-01
Series:Italian Journal of Pediatrics
Subjects:
Asphyxia
Leonatal
Pompe disease
Heart disease
Newborn screening
Online Access:https://doi.org/10.1186/s13052-025-02088-3
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https://doi.org/10.1186/s13052-025-02088-3

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