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Items: 7

1.
First Record Mutations in the Genes ASPA and ARSA Causing Leukodystrophy in Jordan
Tawfiq Froukh
Biomed Res Int. 2019; 2019: 7235914. Published online 2019 Jan 30. doi: 10.1155/2019/7235914
PMCID:
PMC6374869
AbstractArticlePDF–1.2M
2.
Terminal 22q deletion associated with a partial deficiency of arylsulphatase A.
K Narahara, Y Takahashi, M Murakami, K Tsuji, Y Yokoyama, R Murakami, S Ninomiya, Y Seino
J Med Genet. 1992 Jun; 29(6): 432–433. doi: 10.1136/jmg.29.6.432
PMCID:
PMC1016000
SummaryPage BrowsePDF–432K
3.
Lysosomal arylsulfatase deficiencies in humans: Chromosome assignments for arylsulfatase A and B
Chester DeLuca, Judith A. Brown, Thomas B. Shows
Proc Natl Acad Sci U S A. 1979 Apr; 76(4): 1957–1961. doi: 10.1073/pnas.76.4.1957
PMCID:
PMC383512
SummaryPage BrowsePDF–1.2M
4.
Metachromatic leukodystrophy: Characterization of two (p.Leu433Val, p.Gly449Arg) arylsulfatase A mutations
Yangyang Wang, Xiang Chen, Chan Liu, Shamin Wu, Qingfeng Xie, Quan Hu, Shan Chen, Yiwei Liu
Exp Ther Med. 2019 Sep; 18(3): 1738–1744. Published online 2019 Jul 9. doi: 10.3892/etm.2019.7760
PMCID:
PMC6676083
AbstractArticlePDF–727K
5.
Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder
Neda Golchin, Mohammadreza Hajjari, Reza Azizi Malamiri, Majid Aminzadeh, Javad Mohammadi-asl
Genet Mol Biol. 2017 Oct-Dec; 40(4): 759–762. Published online 2017 Nov 6. doi: 10.1590/1678-4685-GMB-2016-0110
PMCID:
PMC5738620
AbstractArticlePDF–1.2M
6.
Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations
Masoumeh Dehghan Manshadi, Behnam Kamalidehghan, Omid Aryani, Elham Khalili, Sepideh Dadgar, Mahdi Tondar, Fatemeh Ahmadipour, Goh Yong Meng, Massoud Houshmand
Ther Clin Risk Manag. 2017; 13: 725–731. Published online 2017 Jun 16. doi: 10.2147/TCRM.S119967
PMCID:
PMC5482404
AbstractArticlePDF–2.1M
7.
Pharmacokinetics and Brain Uptake in the Rhesus Monkey of a Fusion Protein of Arylsulfatase A and a Monoclonal Antibody Against the Human Insulin Receptor
Ruben J. Boado, Jeff Zhiqiang Lu, Eric K.-W. Hui, Rachita K. Sumbria, William M. Pardridge
Biotechnol Bioeng. Author manuscript; available in PMC 2014 Feb 10.
Published in final edited form as: Biotechnol Bioeng. 2013 May; 110(5): 1456–1465. Published online 2012 Dec 25. doi: 10.1002/bit.24795
PMCID:
PMC3919501
AbstractArticlePDF–2.5M

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