PMC Links for Nucleotide (Select 1519314751) - PMC

Select item 61756341.

Detection of Mucopolysaccharidosis III-A (Sanfilippo Syndrome-A) in Dried Blood Spots (DBS) by Tandem Mass Spectrometry

Fan Yi, Xinying Hong, Arun Babu Kumar, Chengli Zong, Geert-Jan Boons, C. Ronald Scott, Frantisek Turecek, Bruce H. Robinson, Michael H. Gelb

Mol Genet Metab. Author manuscript; available in PMC 2019 Sep 1.

Published in final edited form as: Mol Genet Metab. 2018 Sep; 125(1-2): 59–63. Published online 2018 May 23. doi: 10.1016/j.ymgme.2018.05.005

PMCID:: PMC6175634

Abstract Article PDF–594K

Select item 43957982.

Broad Functional Correction of Molecular Impairments by Systemic Delivery of scAAVrh74-hSGSH Gene Delivery in MPS IIIA Mice

F Jason Duncan, Bartholomew J Naughton, Kimberly Zaraspe, Darren A Murrey, Aaron S Meadows, Kelly Reed Clark, David E Newsom, Peter White, Haiyan Fu, Douglas M McCarty

Mol Ther. 2015 Apr; 23(4): 638–647. Prepublished online 2015 Jan 16. Published online 2015 Feb 10. doi: 10.1038/mt.2015.9

PMCID:: PMC4395798

Abstract Article PDF–4.1M

Select item 40141213.

Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA

Navdeep S. Sidhu, Kathrin Schreiber, Kevin Pröpper, Stefan Becker, Isabel Usón, George M. Sheldrick, Jutta Gärtner, Ralph Krätzner, Robert Steinfeld

Acta Crystallogr D Biol Crystallogr. 2014 May 1; 70(Pt 5): 1321–1335. Published online 2014 Apr 30. doi: 10.1107/S1399004714002739

PMCID:: PMC4014121

Abstract Article PDF–1.7M

Select item 63146514.

A novel mutation of SGSH and clinical features analysis of mucopolysaccharidosis type IIIA

Xiaohua Li, Rui Xiao, Baiyu Chen, Guanglu Yang, Xiaomeng Zhang, Zhuo Fu, Junxian Fu, Mengli Zhuang, Yinglong Huang

Medicine (Baltimore) 2018 Dec; 97(52): e13758. Published online 2018 Dec 28. doi: 10.1097/MD.0000000000013758

PMCID:: PMC6314651

Abstract Article PDF–827K

Select item 40241205.

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders

Ana Fernández-Marmiesse, Marcos Morey, Merce Pineda, Jesús Eiris, Maria Luz Couce, Manuel Castro-Gago, Jose Maria Fraga, Lucia Lacerda, Sofia Gouveia, Maria Socorro Pérez-Poyato, Judith Armstrong, Daisy Castiñeiras, Jose A Cocho

Orphanet J Rare Dis. 2014; 9: 59. Published online 2014 Apr 25. doi: 10.1186/1750-1172-9-59

PMCID:: PMC4024120

Abstract Article PDF–447K

Select item 35450596.

Age associated changes in gene expression in human brain and isolated neurons

Azad Kumar, J. Raphael Gibbs, Alexandra Beilina, Allissa Dillman, Ravindran Kumaran, Daniah Trabzuni, Mina Ryten, Robert Walker, Colin Smith, Bryan J. Traynor, John Hardy, Andrew B. Singleton, Mark R Cookson

Neurobiol Aging. Author manuscript; available in PMC 2014 Apr 1.

Published in final edited form as: Neurobiol Aging. 2013 Apr; 34(4): 1199–1209. Published online 2012 Nov 21. doi: 10.1016/j.neurobiolaging.2012.10.021

PMCID:: PMC3545059

Abstract Article PDF–2.8M

Select item 15900317.

Development and validation of a bovine macrophage specific cDNA microarray

Kirsty Jensen, Richard Talbot, Edith Paxton, David Waddington, Elizabeth J Glass

BMC Genomics. 2006; 7: 224. Published online 2006 Sep 1. doi: 10.1186/1471-2164-7-224

PMCID:: PMC1590031

Abstract Article PDF–543K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 7

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity