Outcome of enzyme replacement therapy for hematological and visceral manifestations in children with acid sphingomyelinase deficiency: a single center experience in upper Egypt - Youssef, Mervat A. M.; Shaker, Esraa Hefzy; Saleh, Nahed A M (Molecular and cellular pediatrics, 2025)
Keywords: Acids; Age; Anemia; ASMD; Blood platelets; Children; Computed tomography; Diabetes; Dual energy X-ray absorptiometry; Endocrinology; Enzyme replacement therapy; Enzymes; Epistaxis; Fever; Hematology; Hemoglobin; Liver; Lung diseases; Medicine; Medicine & Public Health; Mutation; Nervous system; Olipudase alfa; Oncology; Patients; Pediatric; Pediatrics; Sphingomyelin phosphodiesterase; Standard scores; Thrombocytopenia; Egypt; Thrombocytopenia; Olipudase alfa; Anemia; Enzyme replacement therapy; Pediatric; ASMD