PMC Links for Nucleotide (Select 972768) - PMC

Select item 61220551.

Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients

Gerald F. Cox, Lorne A. Clarke, Roberto Giugliani, Margaret M. McGovern

JIMD Rep. 2018; 41: 119–129. Published online 2018 Jul 12. doi: 10.1007/8904_2018_120

PMCID:: PMC6122055

Select item 55899802.

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency

Margaret M. McGovern, Carlo Dionisi-Vici, Roberto Giugliani, Paul Hwu, Olivier Lidove, Zoltan Lukacs, Karl Eugen Mengel, Pramod K. Mistry, Edward H. Schuchman, Melissa P. Wasserstein

Genet Med. 2017 Sep; 19(9): 967–974. Published online 2017 Apr 13. doi: 10.1038/gim.2017.7

PMCID:: PMC5589980

Abstract Article PDF–975K

Select item 53226253.

Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD)

Margaret M. McGovern, Ruzan Avetisyan, Bernd-Jan Sanson, Olivier Lidove

Orphanet J Rare Dis. 2017; 12: 41. Published online 2017 Feb 23. doi: 10.1186/s13023-017-0572-x

PMCID:: PMC5322625

Abstract Article PDF–1.1M

Select item 47172114.

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

Mariana Acuña, Pablo Martínez, Carol Moraga, Xingxuan He, Mauricio Moraga, Bessie Hunter, Peter Nuernberg, Rodrigo A Gutiérrez, Mauricio González, Edward H Schuchman, José Luis Santos, Juan Francisco Miquel, Paulina Mabe, Silvana Zanlungo

Eur J Hum Genet. 2016 Feb; 24(2): 208–213. Published online 2015 Apr 29. doi: 10.1038/ejhg.2015.89

PMCID:: PMC4717211

Abstract Article PDF–1.1M

Select item 44249825.

Four Novel p.N385K, p.V36A, c.1033–1034insT and c.1417–1418delCT Mutations in the Sphingomyelin Phosphodiesterase 1 (SMPD1) Gene in Patients with Types A and B Niemann-Pick Disease (NPD)

Masoumeh Dehghan Manshadi, Behnam Kamalidehghan, Fatemeh Keshavarzi, Omid Aryani, Sepideh Dadgar, Ahoora Arastehkani, Mahdi Tondar, Fatemeh Ahmadipour, Goh Yong Meng, Massoud Houshmand

Int J Mol Sci. 2015 Apr; 16(4): 6668–6676. Published online 2015 Mar 24. doi: 10.3390/ijms16046668

PMCID:: PMC4424982

Abstract Article PDF–948K

Select item 28964706.

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

Jonathan P Desnick, Jungmin Kim, Xingxuan He, Melissa P Wasserstein, Calogera M Simonaro, Edward H Schuchman

Mol Med. 2010 Jul-Aug; 16(7-8): 316–321. Published online 2010 Apr 6. doi: 10.2119/molmed.2010.00017

PMCID:: PMC2896470

Abstract Article PDF–329K

Select item 27602457.

Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish Patients

Laura Rodríguez-Pascau, Laura Gort, Edward H. Schuchman, Lluïsa Vilageliu, Daniel Grinberg, Amparo Chabás

Hum Mutat. Author manuscript; available in PMC 2010 Jul 1.

Published in final edited form as: Hum Mutat. 2009 Jul; 30(7): 1117–1122. doi: 10.1002/humu.21018

PMCID:: PMC2760245

Abstract Article PDF–164K

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