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المؤلفون: Chunli Yu, Wenyue Zhang, Melissa P. Wasserstein, Margo Sheck Breilyn
المصدر: Molecular Genetics and Metabolism Reports, Vol 28, Iss, Pp 100780-(2021)
Molecular Genetics and Metabolism Reportsمصطلحات موضوعية: medicine.medical_specialty, Medicine (General), QH301-705.5, Reference range, Disease, Gastroenterology, ASM, acid sphingomyelinase, Endocrinology, R5-920, Internal medicine, SMPD1, sphingomyelin phosphodiesterase 1, Lysosomal storage diseases, Genetics, medicine, Nieman pick disease, Clinical severity, Biology (General), Molecular Biology, Acid sphingomyelinase deficiency, business.industry, Biomarker, Response to treatment, ERT, enzyme replacement therapy, ASMD, acid sphingomyelinase deficiency, Lyso-sphingomyelin, Biomarker (medicine), Acid sphingomyelinase, business, Sphingomyelin, Natural history study, medicine.drug, Research Paper, LSM, Lyso-sphingomyelin