Development of a Diagnostic Screening Strategy for Niemann–Pick Diseases Based on Simultaneous Liquid Chromatography-Tandem Mass Spectrometry Analyses of <i>N</i>-Palmitoyl-<i>O</i>-phosphocholine-serine and Sphingosylphosphorylcholine-Reference-Cited by-同舟云学术

Development of a Diagnostic Screening Strategy for Niemann–Pick Diseases Based on Simultaneous Liquid Chromatography-Tandem Mass Spectrometry Analyses of N-Palmitoyl-O-phosphocholine-serine and Sphingosylphosphorylcholine

Published:2020-09-01 Issue:9 Volume:43 Page:1398-1406
ISSN:0918-6158
Container-title:Biological and Pharmaceutical Bulletin
language:en
Short-container-title:Biol. Pharm. Bull.

Author:

Iwahori Anna¹,Maekawa Masamitsu¹²,Narita Aya³,Kato Akie⁴,Sato Toshihiro²,Ogura Jiro²,Sato Yu²,Kikuchi Masafumi¹²,Noguchi Atsuko⁴,Higaki Katsumi⁵,Okuyama Torayuki⁶,Takahashi Tsutomu⁴,Eto Yoshikatsu⁷,Mano Nariyasu¹²

Affiliation:

1. Faculty of Pharmaceutical Sciences, Tohoku University

2. Department of Pharmaceutical Sciences, Tohoku University Hospital

3. Division of Child Neurology, Tottori University Hospital

4. Department of Pediatrics, Akita University Graduate School of Medicine

5. Division of Functional Genomics, Research Centre for Bioscience and Technology, Faculty of Medicine, Tottori University

6. Department of Clinical Laboratory Medicine, National Center for Child Health and Development

7. Advanced Clinical Research Center, Institute for Neurological Disorders

Publisher

Pharmaceutical Society of Japan

Subject

Pharmaceutical Science,Pharmacology,General Medicine

Link

https://www.jstage.jst.go.jp/article/bpb/43/9/43_b20-00400/_pdf

Reference36 articles.

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3. 3) Schuchman EH. The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann–Pick disease. J. Inherit. Metab. Dis., 30, 654–663 (2007).

4. 4) Schuchman EH. Acid sphingomyelinase, cell membranes and human disease: lessons from Niemann–Pick disease. FEBS Lett., 584, 1895–1900 (2010).

5. 5) Wasserstein MP, Jones SA, Soran H, Diaz GA, Lippa N, Thurberg BL, Culm-Merdek K, Shamiyeh E, Inguilizian H, Cox GF, Puga AC. Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency. Mol. Genet. Metab., 116, 88–97 (2015).

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