scholarly journals Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models

2008 ◽  
Vol 95 (3) ◽  
pp. 152-162 ◽  
Author(s):  
Iwan Jones ◽  
Xingxuan He ◽  
Fourogh Katouzian ◽  
Peter I. Darroch ◽  
Edward H. Schuchman
Keyword(s):  
Mouse Models ◽  
Niemann Pick Disease ◽  
Niemann Pick ◽  
Pick Disease

Acid sphingomyelinase deficiency: Prevalence and characterization of an intermediate phenotype of Niemann-Pick disease

2006 ◽  
Vol 149 (4) ◽  
pp. 554-559 ◽  
Author(s):  
Melissa P. Wasserstein ◽  
Alan Aron ◽  
Scott E. Brodie ◽  
Calogera Simonaro ◽  
Robert J. Desnick ◽  
...  
Keyword(s):  
Acid Sphingomyelinase ◽  
Intermediate Phenotype ◽  
Sphingomyelinase Deficiency ◽  
Niemann Pick Disease ◽  
Niemann Pick ◽  
Pick Disease

scholarly journals Neurodevelopmental Characterization of Young Children Diagnosed with Niemann-Pick Disease, Type C1

2020 ◽  
Vol 41 (5) ◽  
pp. 388-396
Author(s):  
Audrey Thurm ◽  
Colby Chlebowski ◽  
Lisa Joseph ◽  
Cristan Farmer ◽  
Dee Adedipe ◽  
...  
Keyword(s):  
Young Children ◽  
Disease Type ◽  
Niemann Pick Disease ◽  
Niemann Pick ◽  
Pick Disease

scholarly journals Identification and Characterization of Eight Novel SMPD1 Mutations Causing Types A and B Niemann-Pick Disease

2010 ◽  
Vol 16 (7-8) ◽  
pp. 316-321 ◽  
Author(s):  
Jonathan P. Desnick ◽  
Jungmin Kim ◽  
Xingxuan He ◽  
Melissa P. Wasserstein ◽  
Calogera M. Simonaro ◽  
...  
Keyword(s):  
Niemann Pick Disease ◽  
Niemann Pick ◽  
Identification And Characterization ◽  
Pick Disease

Establishment and characterization of immortalized Schwann cells from murine model of Niemann-Pick disease type C (spm/spm)

2001 ◽  
Vol 6 (2) ◽  
pp. 85-94 ◽  
Author(s):  
Kazuhiko Watabe ◽  
Hiroyuki Ida ◽  
Keiko Uehara ◽  
Kiyomitsu Oyanagi ◽  
Tsuyoshi Sakamoto ◽  
...  
Keyword(s):  
Schwann Cells ◽  
Murine Model ◽  
Disease Type ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease ◽  
Immortalized Schwann Cells

scholarly journals Correction: Characterization of hydroxypropyl-beta-cyclodextrins used in the treatment of Niemann-Pick Disease type C1

PLoS ONE ◽  
2018 ◽  
Vol 13 (2) ◽  
pp. e0192424
Author(s):  
Alfred L. Yergey ◽  
Paul S. Blank ◽  
Stephanie M. Cologna ◽  
Peter S. Backlund ◽  
Forbes D. Porter ◽  
...  
Keyword(s):  
Disease Type ◽  
Niemann Pick Disease ◽  
Niemann Pick ◽  
Pick Disease

scholarly journals Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann–Pick disease type B

2015 ◽  
Vol 24 (2) ◽  
pp. 208-213 ◽  
Author(s):  
Mariana Acuña ◽  
Pablo Martínez ◽  
Carol Moraga ◽  
Xingxuan He ◽  
Mauricio Moraga ◽  
...  
Keyword(s):  
Biochemical Characterization ◽  
Disease Type ◽  
Type B ◽  
Niemann Pick Disease ◽  
Niemann Pick ◽  
Pick Disease

scholarly journals Characterization of hydroxypropyl-beta-cyclodextrins used in the treatment of Niemann-Pick Disease type C1

PLoS ONE ◽  
2017 ◽  
Vol 12 (4) ◽  
pp. e0175478 ◽  
Author(s):  
Alfred L. Yergey ◽  
Paul S. Blank ◽  
Stephanie M. Cologna ◽  
Peter S. Backlund ◽  
Forbes D. Porter ◽  
...  
Keyword(s):  
Disease Type ◽  
Niemann Pick Disease ◽  
Niemann Pick ◽  
Pick Disease
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