Caso Clínico I: Enfermedad de Pompe

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Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD).

Orphanet J Rare Dis. 2017 ;12:41

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Wasserstein M, Dionisi-Vici C, Giugliani R, Hwu WL, Lidove O et al.

Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD).

Mol Genet Metab. 2019 ;126:98-105. 

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Syed YY. Olipudase Alfa in Non-CNS

Manifestations of Acid Sphingomyelinase Deficiency: A Profile of Its Use.

Clin Drug Investig. 2023 ;43:369-377. Erratum in: Clin Drug Investig. 2023 ;43:667

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