Outcome of enzyme replacement therapy for hematological and visceral manifestations in children with acid sphingomyelinase deficiency: a single center experience in upper Egypt

Abstract Background Thrombocytopenia is the most common hematologic manifestation of acid sphingomyelinase deficiency (ASMD). The introduction of enzyme replacement therapy (ERT) represents significant progress in the treatment landscape of this disorder. This study presents the largest pediatric ca...

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Principais autores:	Mervat A. M. Youssef, Esraa Hefzy Shaker, Nahed A M Saleh
Format:	Artigo
Jezik:	Inglês
Izdano:	SpringerOpen 2025-08-01
Serija:	Molecular and Cellular Pediatrics
Teme:	ASMD Pediatric Thrombocytopenia Anemia Enzyme replacement therapy Olipudase alfa
Online dostop:	https://doi.org/10.1186/s40348-025-00199-9
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