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“Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay
Author / Creator:Jahic, Amir ; Günther, Sven ; Muschol, Nicole ; Fossøy Stadheim, Barbro ; Braaten, Øivind ; Kjensli Hyldebrandt, Hanne ; Kuiper, Gé‐Ann ; Tylee, Karen ; Wijburg, Frits A. ; Beetz, Christian
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2019-09, Vol.7 (9), p.e00615-n/a
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Quantification of Idua Enzymatic Activity Combined with Observation of Phenotypic Change in Zebrafish Embryos Provide a Preliminary Assessment of Mutated idua Correlated with Mucopolysaccharidosis Typ...
Author / Creator:Lin, Cheng-Yung ; Lin, Hsiang-Yu ; Chuang, Chih-Kuang ; Zhang, Po-Hsiang ; Tu, Yuan-Rong ; Lin, Shuan-Pei ; Tsai, Huai-Jen
Publisher:Basel: MDPI AG
Journal title:Journal of personalized medicine, 2022-07, Vol.12 (8), p.1199
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Whole paternal uniparental disomy of chromosome 4 with a novel homozygous IDUA splicing variant, c.159‐9T>A, in a Chinese patient with mucopolysaccharidosis type I
Author / Creator:Yan, Lulu ; Ding, Shuxia ; He, Yan ; Fu, Bin ; Chen, Changshui ; Li, Haibo
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2024-08, Vol.12 (8), p.e2507-n/a
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Functional assessment of IDUA variants of uncertain significance identified by newborn screening
Author / Creator:Yu, Seok-Ho ; Kubaski, Francyne ; Arno, Gavin ; Phinney, Whitney ; Wood, Tim C. ; Flanagan-Steet, Heather ; Pollard, Laura M. ; Steet, Richard
Publisher:London: Nature Publishing Group UK
Journal title:Npj genomic medicine, 2024-12, Vol.9 (1), p.68-10, Article 68
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A deletion of IDUA exon 10 in a family of Golden Retriever dogs with an attenuated form of mucopolysaccharidosis type I
Author / Creator:Faller, Kiterie M. E. ; Ridyard, Alison E. ; Gutierrez‐Quintana, Rodrigo ; Rupp, Angie ; Kun‐Rodrigues, Celia ; Orme, Tatiana ; Tylee, Karen L. ; Church, Heather J. ; Guerreiro, Rita ; Bras, Jose
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:Journal of veterinary internal medicine, 2020-09, Vol.34 (5), p.1813-1824
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Drosophila D-idua Reduction Mimics Mucopolysaccharidosis Type I Disease-Related Phenotypes
Author / Creator:De Filippis, Concetta ; Napoli, Barbara ; Rigon, Laura ; Guarato, Giulia ; Bauer, Reinhard ; Tomanin, Rosella ; Orso, Genny
Publisher:Switzerland: MDPI AG
Journal title:Cells (Basel, Switzerland), 2021-12, Vol.11 (1), p.129
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IDUA Gene Variants and Response to Zoledronic Acid Treatment in Chinese Women with Postmenopausal Osteoporosis
Author / Creator:Lin, Haiqing ; Li, Jin ; Xu, Zhonghua ; Liu, Ting ; Zhou, Xindie
Publisher:Macclesfield: Dove Medical Press Limited
Journal title:Pharmacogenomics and personalized medicine, 2021-01, Vol.14, p.859-866
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A Biochemical Platform to Define the Relative Specific Activity of IDUA Variants Identified by Newborn Screening
Author / Creator:Yu, Seok-Ho ; Pollard, Laura ; Wood, Tim ; Flanagan-Steet, Heather ; Steet, Richard
Publisher:Switzerland: MDPI
Journal title:International journal of neonatal screening, 2020-11, Vol.6 (4), p.88
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Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome
Author / Creator:Chkioua, Latifa ; Boudabous, Hela ; Jaballi, Ibtissem ; Grissa, Oussama ; Turkia, Hadhami Ben ; Tebib, Neji ; Laradi, Sandrine
Publisher:England: BioMed Central Ltd
Journal title:Diagnostic pathology, 2018-05, Vol.13 (1), p.35-35, Article 35
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Decreased performance in IDUA knockout mouse mimic limitations of joint function and locomotion in patients with Hurler syndrome
Author / Creator:Kim, Chihwa ; Kwak, Min Jung ; Cho, Sung Yoon ; Ko, Ah-ra ; Rheey, Jinguen ; Kwon, Jeong-Yi ; Chung, Yokyung ; Jin, Dong-Kyu
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2015-09, Vol.10 (1), p.121-121, Article 121
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Multi-channel PMMA microfluidic biosensor with integrated IDUAs for electrochemical detection
Author / Creator:Wongkaew, Nongnoot ; He, Peng ; Kurth, Vanessa ; Surareungchai, Werasak ; Baeumner, Antje J.
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Analytical and bioanalytical chemistry, 2013-07, Vol.405 (18), p.5965-5974
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Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree
Author / Creator:Zhou, Yong‐An ; Li, Ping ; Zhang, Yanping ; Xiong, Qiuhong ; Li, Chao ; Zhao, Zhonghua ; Wang, Yuxian ; Xiao, Han
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2020-01, Vol.8 (1), p.e1058-n/a
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Maternal mosaicism for IDUA deletion clarifies recurrence risk in MPS I
Author / Creator:Breen, Catherine ; Mercer, Jean ; Jones, Simon A ; Jahic, Amir ; Heptinstall, Lesley ; Tylee, Karen ; Newman, William G ; Beetz, Christian
Publisher:London: Nature Publishing Group UK
Journal title:Human genome variation, 2016-10, Vol.3 (1), p.16031-16031, Article 16031
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Comparative Effectiveness of Intracerebroventricular, Intrathecal, and Intranasal Routes of AAV9 Vector Administration for Genetic Therapy of Neurologic Disease in Murine Mucopolysaccharidosis Type I
Author / Creator:Belur, Lalitha R. ; Romero, Megan ; Lee, Junggu ; Podetz-Pedersen, Kelly M. ; Nan, Zhenhong ; Riedl, Maureen S. ; Vulchanova, Lucy ; Kitto, Kelley F. ; Fairbanks, Carolyn A. ; Kozarsky, Karen F. ; Orchard, Paul J. ; Frey, William H. ; Low, Walter C. ; McIvor, R. Scott
Publisher:Switzerland: Frontiers Research Foundation
Journal title:Frontiers in molecular neuroscience, 2021-05, Vol.14, p.618360-618360
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Clinically relevant aminoglycosides can suppress disease-associated premature stop mutations in the IDUA and P53 cDNAs in a mammalian translation system
Author / Creator:Keeling, Kim M. ; Bedwell, David M.
Publisher:Berlin: Springer
Journal title:Journal of molecular medicine (Berlin, Germany), 2002-06, Vol.80 (6), p.367-376
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Mutation c.1190-1delG/N in intron 8 and c.1708G>C/N in exon 12 not reported in the IDUA gene developed a clinical phenotype of Scheie syndrome
Author / Creator:Delgado Luengo, Wilmer N ; Miranda Contreras, Luis E ; Chávez, Carlos J ; Solis-Añez, Ernesto ; Cammarata-Scalisi, Francisco
Publisher:Venezuela: Universidad del Zulia
Journal title:Investigación clínica, 2014-12, Vol.55 (4), p.365-370
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582. Mesenchymal Stem Cells Do Not Prevent Alloantibody Response Against IDUA Used To Treat MPSI
Publisher:Elsevier Inc
Journal title:Molecular therapy, 2013-05, Vol.21, p.S223-S223
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Molecular Analysis of Vietnamese Patients with Mucopolysaccharidosis Type I
Author / Creator:Can, Ngoc Thi Bich ; Tran, Dien Minh ; Bui, Thao Phuong ; Nguyen, Khanh Ngoc ; Nguyen, Hoang Huy ; Nguyen, Tung Van ; Hwu, Wuh-Liang ; Tomatsu, Shunji ; Vu, Dung Chi
Publisher:Basel: MDPI AG
Journal title:Life (Basel, Switzerland), 2021-10, Vol.11 (11), p.1162
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38. Preclinical Evaluation of Systemic Delivery of Blood-Brain Barrier-Targeted IDUA in Treating CNS Deficits of Mice with Hurler Syndrome after Long Term Stem Cell Gene Therapy
Publisher:Elsevier Inc
Journal title:Molecular therapy, 2013-05, Vol.21, p.S16-S16
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40. Targeted Delivery of IDUA across the Blood-Brain Barrier for Treatment of MPS Type I
Publisher:Elsevier Inc
Journal title:Molecular therapy, 2011-05, Vol.19, p.S15-S16
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“Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay

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Quantification of Idua Enzymatic Activity Combined with Observation of Phenotypic Change in Zebrafish Embryos Provide a Preliminary Assessment of Mutated idua Correlated with Mucopolysaccharidosis Typ...

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Whole paternal uniparental disomy of chromosome 4 with a novel homozygous IDUA splicing variant, c.159‐9T>A, in a Chinese patient with mucopolysaccharidosis type I

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Functional assessment of IDUA variants of uncertain significance identified by newborn screening

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

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Drosophila D-idua Reduction Mimics Mucopolysaccharidosis Type I Disease-Related Phenotypes

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IDUA Gene Variants and Response to Zoledronic Acid Treatment in Chinese Women with Postmenopausal Osteoporosis

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A Biochemical Platform to Define the Relative Specific Activity of IDUA Variants Identified by Newborn Screening

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Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome

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Decreased performance in IDUA knockout mouse mimic limitations of joint function and locomotion in patients with Hurler syndrome

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Multi-channel PMMA microfluidic biosensor with integrated IDUAs for electrochemical detection

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

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Maternal mosaicism for IDUA deletion clarifies recurrence risk in MPS I

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Comparative Effectiveness of Intracerebroventricular, Intrathecal, and Intranasal Routes of AAV9 Vector Administration for Genetic Therapy of Neurologic Disease in Murine Mucopolysaccharidosis Type I

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Clinically relevant aminoglycosides can suppress disease-associated premature stop mutations in the IDUA and P53 cDNAs in a mammalian translation system

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Mutation c.1190-1delG/N in intron 8 and c.1708G>C/N in exon 12 not reported in the IDUA gene developed a clinical phenotype of Scheie syndrome

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582. Mesenchymal Stem Cells Do Not Prevent Alloantibody Response Against IDUA Used To Treat MPSI

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Molecular Analysis of Vietnamese Patients with Mucopolysaccharidosis Type I

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38. Preclinical Evaluation of Systemic Delivery of Blood-Brain Barrier-Targeted IDUA in Treating CNS Deficits of Mice with Hurler Syndrome after Long Term Stem Cell Gene Therapy

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40. Targeted Delivery of IDUA across the Blood-Brain Barrier for Treatment of MPS Type I

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