Caso Clínico I: Enfermedad de Pompe

Martinez-Marin RJ, Reyes-Leiva D, Nascimento A, Muelas N, Dominguez-González C et al.

Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.

Neuromuscul Disord. 2024 ;34:1-8

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Ditters IAM, Huidekoper HH, Kruijshaar ME, Rizopoulos D, Hahn A et al.;

European Pompe Consortium project group on classic infantile Pompe disease. Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium.

Lancet Child Adolesc Health. 2022 ;6:28-37.

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