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Select item 85256531.

Mucopolysaccharidoses type I gene therapy

Sarah C. Hurt, Patricia I. Dickson, David T. Curiel

J Inherit Metab Dis. 2021 Sep; 44(5): 1088–1098. Published online 2021 Jul 9. doi: 10.1002/jimd.12414

PMCID:: PMC8525653

Abstract Article PDF–1.7M

Select item 69782652.

Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree

Yong‐An Zhou, Ping Li, Yanping Zhang, Qiuhong Xiong, Chao Li, Zhonghua Zhao, Yuxian Wang, Han Xiao

Mol Genet Genomic Med. 2020 Jan; 8(1): e1058. Published online 2019 Nov 23. doi: 10.1002/mgg3.1058

PMCID:: PMC6978265

Abstract Article PDF–806K

Select item 68053193.

Mutation analysis and clinical characterization of Iranian patients with mucopolysaccharidosis type I

Mohammad Taghikhani, Shohreh Khatami, Mohammad Abdi, Mohammad Said Hakhamaneshi, Mohammad Reza Alaei, Daniel Zamanfar, Rahim Vakili

J Clin Lab Anal. 2019 Oct; 33(8): e22963. Published online 2019 Aug 6. doi: 10.1002/jcla.22963

PMCID:: PMC6805319

Abstract Article PDF–1.3M

Select item 67323134.

“Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay

Amir Jahic, Sven Günther, Nicole Muschol, Barbro Fossøy Stadheim, Øivind Braaten, Hanne Kjensli Hyldebrandt, Gé‐Ann Kuiper, Karen Tylee, Frits A. Wijburg, Christian Beetz

Mol Genet Genomic Med. 2019 Sep; 7(9): e00615. Published online 2019 Jul 18. doi: 10.1002/mgg3.615

PMCID:: PMC6732313

Abstract Article PDF–614K

Select item 65891885.

Associations of IDUA and PTCH1 with Bone Mineral Density, Bone Turnover Markers, and Fractures in Chinese Elderly Patients with Osteoporosis

Qifei Wang, Chong Tang, Junxiu Jia, Guangwu Zhang, Zheng Liu

Dis Markers. 2019; 2019: 9503762. Published online 2019 Jun 2. doi: 10.1155/2019/9503762

PMCID:: PMC6589188

Abstract Article PDF–682K

Select item 52400376.

Neonatal tolerance induction enables accurate evaluation of gene therapy for MPS I in a canine model

Christian Hinderer, Peter Bell, Jean-Pierre Louboutin, Nathan Katz, Yanqing Zhu, Gloria Lin, Ruth Choa, Jessica Bagel, Patricia O'Donnell, Caitlin A. Fitzgerald, Therese Langan, Ping Wang, Margret L. Casal, Mark E. Haskins, James M. Wilson

Mol Genet Metab. Author manuscript; available in PMC 2017 Sep 1.

Published in final edited form as: Mol Genet Metab. 2016 Sep; 119(1-2): 124–130. Published online 2016 Jun 8. doi: 10.1016/j.ymgme.2016.06.006

PMCID:: PMC5240037

Abstract Article PDF–1.3M

Select item 49830327.

Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I

Min Jung Kwak, Rimm Huh, Jinsup Kim, Hyung-Doo Park, Sung Yoon Cho, Dong-Kyu Jin

BMC Med Genet. 2016; 17: 58. Published online 2016 Aug 12. doi: 10.1186/s12881-016-0319-x

PMCID:: PMC4983032

Abstract Article PDF–416K

Select item 48815658.

Clinical and Molecular Characterization of Patients with Mucopolysaccharidosis Type I in an Algerian Series

Abdellah Tebani, Lahouaria Zanoutene-Cheriet, Zoubir Adjtoutah, Lenaig Abily-Donval, Carole Brasse-Lagnel, Annie Laquerrière, Stephane Marret, Abla Chalabi Benabdellah, Soumeya Bekri

Int J Mol Sci. 2016 May; 17(5): 743. Published online 2016 May 17. doi: 10.3390/ijms17050743

PMCID:: PMC4881565

Abstract Article PDF–196K

Select item 44164919.

Direct Gene Transfer to the CNS Prevents Emergence of Neurologic Disease in a Murine Model of Mucopolysaccharidosis Type I

Daniel A. Wolf, Andrew W. Lenander, Zhenhong Nan, Lalitha R. Belur, Chester B. Whitley, Pankaj Gupta, Walter C. Low, R. Scott McIvor

Neurobiol Dis. Author manuscript; available in PMC 2015 May 1.

Published in final edited form as: Neurobiol Dis. 2011 Jul; 43(1): 123–133. Published online 2011 Mar 17. doi: 10.1016/j.nbd.2011.02.015

PMCID:: PMC4416491

Abstract Article PDF–1.8M

Select item 393982210.

Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the alpha-L-iduronidase gene in Hurler-Scheie syndrome

Alia Ahmed, Chester B. Whitley, Renee Cooksley, Kyle Rudser, Stephanie Cagle, Nadia Ali, Kathleen Delaney, Brianna Yund, Elsa Shapiro

Mol Genet Metab. Author manuscript; available in PMC 2015 Feb 1.

Published in final edited form as: Mol Genet Metab. 2014 Feb; 111(2): 123–127. Published online 2013 Dec 12. doi: 10.1016/j.ymgme.2013.11.014

PMCID:: PMC3939822

Abstract Article PDF–591K

Select item 376753211.

Human α-l-iduronidase uses its own N-glycan as a substrate-binding and catalytic module

Nobuo Maita, Takahiro Tsukimura, Takako Taniguchi, Seiji Saito, Kazuki Ohno, Hisaaki Taniguchi, Hitoshi Sakuraba

Proc Natl Acad Sci U S A. 2013 Sep 3; 110(36): 14628–14633. Published online 2013 Aug 19. doi: 10.1073/pnas.1306939110

PMCID:: PMC3767532

Abstract Article PDF–1.3M

Select item 352615512.

Mucopolysaccharidosis type I in 21 Czech and Slovak patients: Mutation analysis suggests a functional importance of C-terminus of the IDUA protein

Alzbeta Vazna, Clare Beesley, Linda Berna, Larisa Stolnaja, Helena Myskova, Michaela Bouckova, Hana Vlaskova, Helena Poupetova, Jiri Zeman, Martin Magner, Anna Hlavata, Bryan Winchester, Martin Hrebicek, Lenka Dvorakova

Am J Med Genet A. 2009 May; 149A(5): 965–974. Published online 2009 Apr 24. doi: 10.1002/ajmg.a.32812

PMCID:: PMC3526155

Abstract Article PDF–267K

Select item 351538213.

Crystallization, X-ray diffraction analysis and SIRAS phasing of human α-l-iduronidase

Nobuo Maita, Hisaaki Taniguchi, Hitoshi Sakuraba

Acta Crystallogr Sect F Struct Biol Cryst Commun. 2012 Nov 1; 68(Pt 11): 1363–1366. Published online 2012 Oct 30. doi: 10.1107/S1744309112040432

PMCID:: PMC3515382

Abstract Article PDF–837K

Select item 313549814.

Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients

Latifa Chkioua, Souhir Khedhiri, Hadhami Ben Turkia, Rémy Tcheng, Roseline Froissart, Henda Chahed, Salima Ferchichi, Marie Françoise Ben Dridi, Christine Vianey-Saban, Sandrine Laradi, Abdelhedi Miled

Diagn Pathol. 2011; 6: 47. Published online 2011 Jun 3. doi: 10.1186/1746-1596-6-47

PMCID:: PMC3135498

Abstract Article PDF–358K

Select item 311010615.

Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms

Latifa Chkioua, Souhir Khedhiri, Asma Kassab, Amina Bibi, Salima Ferchichi, Roseline Froissart, Christine Vianey-Saban, Sandrine Laradi, Abdelhedi Miled

Diagn Pathol. 2011; 6: 39. Published online 2011 Apr 26. doi: 10.1186/1746-1596-6-39