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Select item 90969841.

Role of 3-Methacryloxypropyltrimethoxysilane in Dentin Bonding

Xin Jin, Xiaojun Yuan, Kai Chen, Haifeng Xie, Chen Chen

ACS Omega. 2022 May 10; 7(18): 15892–15900. Published online 2022 Apr 29. doi: 10.1021/acsomega.2c01000

PMCID:: PMC9096984

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Select item 87306522.

Multicenter assessment of quantitative sensory testing (QST) for the detection of neuropathic-like pain responses using the topical capsaicin model

Catherine E. Ferland, Chantal Villemure, Pierre-Emmanuel Michon, Wiebke Gandhi, My-Linh Ma, Florian Chouchou, Alexandre J. Parent, M. Catherine Bushnell, Gilles Lavigne, Pierre Rainville, Mark A. Ware, Philip L. Jackson, Petra Schweinhardt, Serge Marchand

Can J Pain. 2018; 2(1): 266–279. Published online 2018 Oct 23. doi: 10.1080/24740527.2018.1525682

PMCID:: PMC8730652

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Select item 102702493.

Focal lesions following intracerebral gene therapy for mucopolysaccharidosis IIIA

Marianna Bugiani, Truus E. M. Abbink, Arthur W. D. Edridge, Lia van der Hoek, Anne E. J. Hillen, Niek P. van Til, Gino V. Hu‐A‐Ng, Marjolein Breur, Karen Aiach, Philippe Drevot, Michaël Hocquemiller, Ralph Laufer, Frits A. Wijburg, Marjo S. van der Knaap

Ann Clin Transl Neurol. 2023 Jun; 10(6): 904–917. Published online 2023 May 11. doi: 10.1002/acn3.51772

PMCID:: PMC10270249

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Select item 101855714.

A novel mucopolysaccharidosis type II mouse model with an iduronate-2-sulfatase-P88L mutation

Ryuichi Mashima, Mari Ohira, Torayuki Okuyama, Masafumi Onodera, Shuji Takada

Sci Rep. 2023; 13: 7865. Published online 2023 May 15. doi: 10.1038/s41598-023-34541-w

PMCID:: PMC10185571

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Select item 96024115.

Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family

Saima Ghafoor, Karina da Costa Silveira, Raheel Qamar, Maleeha Azam, Peter Kannu

Genes (Basel) 2022 Oct; 13(10): 1743. Published online 2022 Sep 27. doi: 10.3390/genes13101743

PMCID:: PMC9602411

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Select item 95540546.

Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency

Sarah Verheyen, Jasmin Blatterer, Michael R Speicher, Gandham SriLakshmi Bhavani, Geert-Jan Boons, Mai-Britt Ilse, Dominik Andrae, Jens Sproß, Frédéric Maxime Vaz, Susanne G Kircher, Laura Posch-Pertl, Daniela Baumgartner, Torben Lübke, Hitesh Shah, Ali Al Kaissi, Katta M Girisha, Barbara Plecko

J Med Genet. 2022 Oct; 59(10): 957–964. Published online 2021 Dec 16. doi: 10.1136/jmedgenet-2021-108061

PMCID:: PMC9554054

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Select item 95459557.

Growth in individuals with attenuated mucopolysaccharidosis type I during untreated and treated periods: Data from the MPS I registry

Lynda E. Polgreen, Luisa Bay, Lorne A. Clarke, Nathalie Guffon, Simon A. Jones, Joseph Muenzer, Ana Lorena Flores, Kathryn Wilson, David Viskochil

Am J Med Genet A. 2022 Oct; 188(10): 2941–2951. Published online 2022 Jul 23. doi: 10.1002/ajmg.a.62910

PMCID:: PMC9545955

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Select item 91251408.

Real-world patient data on immunity and COVID-19 status of patients with MPS, Gaucher, and Pompe diseases from Turkey

S. Kilavuz, D. Kor, F.D. Bulut, M. Serbes, D. Karagoz, D.U. Altıntas, A. Bisgin, G. Seydaoğlu, H.N.O. Mungan

Arch Pediatr. 2022 Aug; 29(6): 415–423. Published online 2022 May 23. doi: 10.1016/j.arcped.2022.05.003

PMCID:: PMC9125140

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Select item 91059509.

Current and Future Treatment of Mucopolysaccharidosis (MPS) Type II: Is Brain-Targeted Stem Cell Gene Therapy the Solution for This Devastating Disorder?

Claire Horgan, Simon A. Jones, Brian W. Bigger, Robert Wynn

Int J Mol Sci. 2022 May; 23(9): 4854. Published online 2022 Apr 27. doi: 10.3390/ijms23094854

PMCID:: PMC9105950

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Select item 870759810.

Mucopolysaccharidosis Type VI, an Updated Overview of the Disease

Francesca D’Avanzo, Alessandra Zanetti, Concetta De Filippis, Rosella Tomanin

Int J Mol Sci. 2021 Dec; 22(24): 13456. Published online 2021 Dec 15. doi: 10.3390/ijms222413456

PMCID:: PMC8707598

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Select item 826186311.

Arylsulfatase K inactivation causes mucopolysaccharidosis due to deficient glucuronate desulfation of heparan and chondroitin sulfate

Christof Trabszo, Bastian Ramms, Pradeep Chopra, Renate Lüllmann-Rauch, Stijn Stroobants, Jens Sproß, Anke Jeschke, Thorsten Schinke, Geert-Jan Boons, Jeffrey D. Esko, Torben Lübke, Thomas Dierks

Biochem J. Author manuscript; available in PMC 2021 Jul 7.

Published in final edited form as: Biochem J. 2020 Sep 18; 477(17): 3433–3451. doi: 10.1042/BCJ20200546

PMCID:: PMC8261863

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Select item 760929312.

Attitudes of relatives of mucopolysaccharidosis type III patients toward preconception expanded carrier screening

Stephanie C. M. Nijmeijer, Thirsa Conijn, Phillis Lakeman, Lidewij Henneman, Frits A. Wijburg, Lotte Haverman

Eur J Hum Genet. 2020 Oct; 28(10): 1331–1340. Published online 2020 Jun 1. doi: 10.1038/s41431-020-0648-2

PMCID:: PMC7609293

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Select item 751786413.

A deletion of IDUA exon 10 in a family of Golden Retriever dogs with an attenuated form of mucopolysaccharidosis type I

Kiterie M. E. Faller, Alison E. Ridyard, Rodrigo Gutierrez‐Quintana, Angie Rupp, Celia Kun‐Rodrigues, Tatiana Orme, Karen L. Tylee, Heather J. Church, Rita Guerreiro, Jose Bras

J Vet Intern Med. 2020 Sep; 34(5): 1813–1824. Published online 2020 Aug 12. doi: 10.1111/jvim.15868

PMCID:: PMC7517864

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Select item 724717814.

The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients

L Chkioua, O Grissa, N Leban, M Gribaa, H Boudabous, H Ben Turkia, S Ferchichi, N Tebib, S Laradi

BMC Med Genet. 2020; 21: 111. Published online 2020 May 24. doi: 10.1186/s12881-020-01051-9

PMCID:: PMC7247178

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Select item 716295115.

Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog

Tamer A. Mansour, Kevin D. Woolard, Karen L. Vernau, Devin M. Ancona, Sara M. Thomasy, Lionel Sebbag, Bret A. Moore, Marguerite F. Knipe, Haitham A. Seada, Tina M. Cowan, Miriam Aguilar, C. Titus Brown, Danika L. Bannasch

Sci Rep. 2020; 10: 6558. Published online 2020 Apr 16. doi: 10.1038/s41598-020-63451-4

PMCID:: PMC7162951

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Select item 707294716.

Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment

Francesca D’Avanzo, Laura Rigon, Alessandra Zanetti, Rosella Tomanin

Int J Mol Sci. 2020 Feb; 21(4): 1258. Published online 2020 Feb 13. doi: 10.3390/ijms21041258

PMCID:: PMC7072947

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Select item 703730117.

A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months

Akari Nakamura-Utsunomiya, Toshio Nakamae, Reiko Kagawa, Shuhei Karakawa, Sonoko Sakata, Fumiaki Sakura, Chihiro Tani, Yoshiko Matsubara, Takashi Ishino, Go Tajima, Satoshi Okada

Int J Mol Sci. 2020 Feb; 21(3): 989. Published online 2020 Feb 2. doi: 10.3390/ijms21030989

PMCID:: PMC7037301

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Select item 703532118.

An exonic insertion in the NAGLU gene causing Mucopolysaccharidosis IIIB in Schipperke dogs

Karthik Raj, N. Matthew Ellinwood, Urs Giger

Sci Rep. 2020; 10: 3170. Published online 2020 Feb 21. doi: 10.1038/s41598-020-60121-3

PMCID:: PMC7035321

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Select item 673127119.

Human genome-edited hematopoietic stem cells phenotypically correct Mucopolysaccharidosis type I

Natalia Gomez-Ospina, Samantha G. Scharenberg, Nathalie Mostrel, Rasmus O. Bak, Sruthi Mantri, Rolen M. Quadros, Channabasavaiah B. Gurumurthy, Ciaran Lee, Gang Bao, Carlos J. Suarez, Shaukat Khan, Kazuki Sawamoto, Shunji Tomatsu, Nitin Raj, Laura D. Attardi, Laure Aurelian, Matthew H. Porteus

Nat Commun. 2019; 10: 4045. Published online 2019 Sep 6. doi: 10.1038/s41467-019-11962-8