المؤلفون: Chuang WL; Genzyme Corporation, a Sanofi Company, One Mountain Road, Framingham, MA 01701-9322, USA., Pacheco J; Genzyme Corporation, a Sanofi Company, One Mountain Road, Framingham, MA 01701-9322, USA., Cooper S; Genzyme Corporation, a Sanofi Company, One Mountain Road, Framingham, MA 01701-9322, USA., McGovern MM; Department of Pediatrics, Stony Brook University School of Medicine, Stony Brook, New York, NY 11794-8111, USA., Cox GF; Genzyme Corporation, a Sanofi Company, One Mountain Road, Framingham, MA 01701-9322, USA., Keutzer J; Genzyme Corporation, a Sanofi Company, One Mountain Road, Framingham, MA 01701-9322, USA., Zhang XK; Genzyme Corporation, a Sanofi Company, One Mountain Road, Framingham, MA 01701-9322, USA. Electronic address: Kate.Zhang@genzyme.com.

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2014 Feb; Vol. 111 (2), pp. 209-11. Date of Electronic Publication: 2013 Dec 07.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

مواضيع طبية MeSH: Blood Cells/*chemistry , Niemann-Pick Disease, Type B/*blood , Phosphorylcholine/*analogs & derivatives , Sphingomyelin Phosphodiesterase/*deficiency , Sphingosine/*analogs & derivatives, Case-Control Studies ; Dried Blood Spot Testing ; Humans ; Lysosomes/metabolism ; Lysosomes/pathology ; Macrophages/metabolism ; Macrophages/pathology ; Niemann-Pick Disease, Type B/diagnosis ; Niemann-Pick Disease, Type B/pathology ; Phosphorylcholine/isolation & purification ; Sphingosine/isolation & purification