Lyso-sphingomyelin is elevated in dried blood spots of Niemann–Pick B patients

Niemann–Pick disease type B (NPD-B) is caused by a partial deficiency of acid sphingomyelinase activity and results in the accumulation of lysosomal sphingomyelin (SPM) predominantly in macrophages. Notably, SPM is not significantly elevated in the plasma, whole blood, or urine of NPD-B patients. He...

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Veröffentlicht in:	Molecular genetics and metabolism 2014-02, Vol.111 (2), p.209-211
Hauptverfasser:	Chuang, Wei-Lien, Pacheco, Joshua, Cooper, Samantha, McGovern, Margaret M., Cox, Gerald F., Keutzer, Joan, Zhang, X. Kate
Format:	Artikel
Sprache:	eng
Schlagworte:	Blood Cells - chemistry Case-Control Studies Dried blood spot Dried Blood Spot Testing Humans Lyso-sphingomyelin Lysosomes - metabolism Lysosomes - pathology Macrophages - metabolism Macrophages - pathology Niemann-Pick Disease, Type B - blood Niemann-Pick Disease, Type B - diagnosis Niemann-Pick Disease, Type B - pathology Niemann–Pick disease types A and B Phosphorylcholine - analogs & derivatives Phosphorylcholine - isolation & purification Sphingomyelin Sphingomyelin Phosphodiesterase - deficiency Sphingosine - analogs & derivatives Sphingosine - isolation & purification
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