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■ Abbreviation / Long Form : IDUA / alpha-L-iduronidase

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Total Number of Papers: 202
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Abbreviation:   IDUA  (>> Co-occurring Abbreviation)
Long Form:   alpha-L-iduronidase
 Abbreviation Variation
 Long Form Variation
 Pair(Abbreviation/Long Form) Variation
No. Year Title Co-occurring Abbreviation
2020 A Highly Efficacious PS Gene Editing System Corrects Metabolic and Neurological Complications of Mucopolysaccharidosis Type I. AAV8, GUIDE-seq, MPS I, PS
2020 Cognitive Abilities of Dogs with Mucopolysaccharidosis I: Learning and Memory. AO, DNMP, GAG, MPS I, RL, SD, VD
2020 Evidence that glycosaminoglycan storage and collagen deposition in the cauda epididymidis does not impair sperm viability in the Mucopolysaccharidosis type I mouse model. GAG, MPS I
2020 Intrastromal Gene Therapy Prevents and Reverses Advanced Corneal Clouding in a Canine Model of Mucopolysaccharidosis I. AAV, MPS I
2020 Morphologic description of male reproductive accessory glands in a mouse model of mucopolysaccharidosis type I (MPS I). GAGs, MPS I
2020 Neonatal nonviral gene editing with the CRISPR/Cas9 system improves some cardiovascular, respiratory, and bone disease features of the mucopolysaccharidosis I phenotype in mice. GAG, MPS I
2020 Validation of Liquid Chromatography-Tandem Mass Spectrometry-Based 5-Plex Assay for Mucopolysaccharidoses. I2S, MPSs, NAGLU
2020 Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog. MPS
2019 "Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assay. CNVs, MLPA, MPS I
10  2019 A longitudinal study of neurocognition and behavior in patients with Hurler-Scheie syndrome heterozygous for the L238Q mutation. ---
11  2019 A novel compound mutation in alpha-L-iduronidase gene causes mucopolysaccharidosis type I. MPS I
12  2019 Associations of IDUA and PTCH1 with Bone Mineral Density, Bone Turnover Markers, and Fractures in Chinese Elderly Patients with Osteoporosis. ANCOVA, BMD, BMDs, BTMs, DEXA, ECL, HWE, LS, OP, PTCH1, SNPs, SOP, TH
13  2019 Brassica rapa hairy root based expression system leads to the production of highly homogenous and reproducible profiles of recombinant human alpha-L-iduronidase. CHO, M3XFGN2
14  2019 Generation of a human induced pluripotent stem cell line, BRCi001-A, derived from a patient with mucopolysaccharidosis type I. MPS I
15  2019 Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry. MPS I
16  2019 Induced Pluripotent Stem Cell Derivation and Ex Vivo Gene Correction Using a Mucopolysaccharidosis Type 1 Disease Mouse Model. iPSC, MPS1, Neor
17  2019 Mucopolysaccharidosis Type I and Bilateral Optic Disc Edema. ---
18  2019 Mutation analysis and clinical characterization of Iranian patients with mucopolysaccharidosis type I. MPS I
19  2019 Safe and Sustained Expression of Human Iduronidase After Intrathecal Administration of Adeno-Associated Virus Serotype 9 in Infant Rhesus Monkeys. AAV, CSF, DRG
20  2019 Sexual behaviour in a murine model of mucopolysaccharidosis type I (MPS I). GAGs, MPS I
21  2019 Targeting a Pre-existing Anti-transgene T Cell Response for Effective Gene Therapy of MPS-I in the Mouse Model of the Disease. ERT, HSC, MPS I
22  2019 The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening. GAG, MPS I
23  2019 Toward Engineering the Mannose 6-Phosphate Elaboration Pathway in Plants for Enzyme Replacement Therapy of Lysosomal Storage Disorders. ERT, M6P, MPS
24  2019 ZFN-Mediated InVivo Genome Editing Corrects Murine Hurler Syndrome. GAG, MPS I
25  2018 Carbon nanotubes as nanovectors for intracellular delivery of laronidase in Mucopolysaccharidosis type I. CNTs
26  2018 Gene editing of MPS I human fibroblasts by co-delivery of a CRISPR/Cas9 plasmid and a donor oligonucleotide using nanoemulsions as nonviral carriers. MPS I
27  2018 Getting the Most: Enhancing Efficacy by Promoting Erythropoiesis and Thrombopoiesis after Gene Therapy in Mice with Hurler Syndrome. EMK, HSCs, LV, MEDs, MPS I, VCNs
28  2018 In vivo genome editing of mucopolysaccharidosis I mice using the CRISPR/Cas9 system. GAG, MPS I
29  2018 Intra-articular nonviral gene therapy in mucopolysaccharidosis I mice. FLS, GAGs, MPS I, pIDUA, SSF
30  2018 Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (valanafusp alpha): an open label phase 1-2 trial. BBB, DQ, MPS
31  2018 Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy. ABG, DBS, GLA, LSDs, MPS I, MS/MS, NBS
32  2018 Newborn screening in mucopolysaccharidoses. GAGs, MPS, MPS I, NBS, VUS
33  2018 Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome. MPS I
34  2018 Optimization of alginate microcapsules containing cells overexpressing alpha-l-iduronidase using Box-Behnken design. BHK, GAG, MC-A, MC-APA, MPS I
35  2018 p.X654R IDUA variant among Thai individuals with intermediate mucopolysaccharidosis type I and its residual activity as demonstrated in COS-7 cells. MPS I
36  2018 Patient iPSC-derived neural stem cells exhibit phenotypes in concordance with the clinical severity of mucopolysaccharidosis I. GAGs, GO, iPSCs, MPS I, NSCs
37  2018 Plasma Pharmacokinetics of Valanafusp Alpha, a Human Insulin Receptor Antibody-Iduronidase Fusion Protein, in Patients with Mucopolysaccharidosis Type I. ADAs, BBB, CNS, ERT, HIR, mAb, MPS I
38  2018 RTB lectin-mediated delivery of lysosomal alpha-l-iduronidase mitigates disease manifestations systemically including the central nervous system. BBB, ERT, GAG, MPS I
39  2018 Salivary alpha-Iduronidase Activity as a Potential New Biomarker for the Diagnosis and Monitoring the Effect of Therapy in Mucopolysaccharidosis Type I. DBSs, HCT, MPS I
40  2018 Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan. ERT, GAGs, IDS, MPS
41  2018 Worldwide distribution of common IDUA pathogenic variants. MPS I
42  2017 Alpha-l-iduronidase and arylsulfatase B in dried blood spots on filter paper: Biochemical parameters and time stability. ASB, DBS, MPS
43  2017 Angiotensin receptor blockade mediated amelioration of mucopolysaccharidosis type I cardiac and craniofacial pathology. ARB, LSD, MPS IH, RAS
44  2017 Brain and Organ Uptake in the Rhesus Monkey in Vivo of Recombinant Iduronidase Compared to an Insulin Receptor Antibody-Iduronidase Fusion Protein. BBB, ERT, HIR, mAb, MPS I
45  2017 Factors influencing transfection efficiency of pIDUA/nanoemulsion complexes in a mucopolysaccharidosis type I murine model. DOTAP, MPS I
46  2017 Guanidinylated Neomycin Conjugation Enhances Intranasal Enzyme Replacement in the Brain. GNeo
47  2017 Intranasal Adeno-Associated Virus Mediated Gene Delivery and Expression of Human Iduronidase in the Central Nervous System: A Noninvasive and Effective Approach for Prevention of Neurologic Disease in Mucopolysaccharidosis Type I. AAV9, CNS, MPS I
48  2017 Liver-Directed Human Amniotic Epithelial Cell Transplantation Improves Systemic Disease Phenotype in Hurler Syndrome Mouse Model. GAG, hAECs, MPS1
49  2017 Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses and Type 2 Neuronal Ceroid Lipofuscinosis. DBS, GUSB, I2S, NAGLU, TPP1
50  2017 N-glycan structures and downstream mannose-phosphorylation of plant recombinant human alpha-L-iduronidase: toward development of enzyme replacement therapy for mucopolysaccharidosis I. cgl, GM1, M6P, TSP
51  2017 Phenotype prediction for mucopolysaccharidosis type I by in silico analysis. GAG, MPS I, SNPs
52  2017 Prolonged Expression of Secreted Enzymes in Dogs After Liver-Directed Delivery of Sleeping Beauty Transposons: Implications for Non-Viral Gene Therapy of Systemic Disease. cFIX, cSEAP, GUSB, SB
53  2017 Proteomic analysis of mucopolysaccharidosis I mouse brain with two-dimensional polyacrylamide gel electrophoresis. GAG, GO, MPS I, PAGE
54  2017 Subcutaneous implantation ofmicroencapsulated cells overexpressing alpha-L-iduronidase for mucopolysaccharidosis type I treatment. APA, GAG, MPS I
55  2017 Transcranial pulsed ultrasound facilitates brain uptake of laronidase in enzyme replacement therapy for Mucopolysaccharidosis type I disease. BBB, MPS I, rhIDU
56  2016 Elements of lentiviral vector design toward gene therapy for treating mucopolysaccharidosis I. GAG, MPS I, WPRE
57  2016 Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II. IDS, MPS
58  2016 Neonatal tolerance induction enables accurate evaluation of gene therapy for MPS I in a canine model. MPS I
59  2016 Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry. DBS, GAA, GALC, GBA, GLA, MPS-I, MS/MS, NBS, SMPD1
60  2016 Preclinical Testing of the Safety and Tolerability of Lentiviral Vector-Mediated Above-Normal Alpha-L-Iduronidase Expression in Murine and Human Hematopoietic Cells Using Toxicology and Biodistribution Good Laboratory Practice Studies. HSC, HSPCs, IS, LV, MPS I
61  2016 Report of 5 novel mutations of the alpha-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I. MPS I
62  2015 A simple and rapid method based on liquid chromatography-tandem mass spectrometry for the measurement of alpha-L-iduronidase activity in dried blood spots: an application to mucopolysaccharidosis I (Hurler) screening. CDC
63  2015 alpha- L-iduronidase gene-based therapy using the phiC31 system to treat mucopolysaccharidose type I mice. GAG, MPS I
64  2015 Cationic Nanoemulsions as a Gene Delivery System: Proof of Concept in the Mucopolysaccharidosis I Murine Model. GAGs, MPS I
65  2015 Decreased performance in IDUA knockout mouse mimic limitations of joint function and locomotion in patients with Hurler syndrome. BMD, DEXA, GAGs, KO, MPS I
66  2015 Diagnosing lysosomal storage disorders: mucopolysaccharidosis type I. DBS, MPS I
67  2015 Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis. ARSB, DBS, IDS, ML, MPS
68  2015 Effects of enzyme replacement therapy started late in a murine model of mucopolysaccharidosis type I. ERT, ERT 6-8mo, LV, MPS I
69  2015 Neonatal Systemic AAV Induces Tolerance to CNS Gene Therapy in MPS I Dogs and Nonhuman Primates. AAV, CNS, CSF, MPS I
70  2015 p.L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients. ---
71  2015 Shotgun proteomics reveals possible mechanisms for cognitive impairment in Mucopolysaccharidosis I mice. GAG, GFAP, MPS I, PSD-95
72  2014 Analysis of male reproductive parameters in a murine model of mucopolysaccharidosis type I (MPS I). GAGs, LSD, MPS, MPS I
73  2014 Comparison of Endovascular and Intraventricular Gene Therapy With Adeno-Associated Virus-alpha-L-Iduronidase for Hurler Disease. MPS I
74  2014 Genotypic and bioinformatic evaluation of the alpha-l-iduronidase gene and protein in patients with mucopolysaccharidosis type I from Colombia, Ecuador and Peru. MPS I
75  2014 High-dose enzyme replacement therapy in murine Hurler syndrome. BBB, CNS, ERT, GAG, MPS I
76  2014 Identification of mucopolysaccharidosis I heterozygotes based on biochemical characteristics of L-iduronidase from dried blood spots. MPS I
77  2014 Intrathecal gene therapy corrects CNS pathology in a feline model of mucopolysaccharidosis I. AAV, CNS, LSD, MPS I
78  2014 Lessons from molecular modeling human alpha-L-iduronidase. DS, GAGs, HS, MPS I, PDB
79  2014 Liver-directed gene therapy corrects cardiovascular lesions in feline mucopolysaccharidosis type I. MPS I
80  2014 Mesenchymal stem cells do not prevent antibody responses against human alpha-L-iduronidase when used to treat mucopolysaccharidosis type I. MPS I
81  2014 Normalization and improvement of CNS deficits in mice with Hurler syndrome after long-term peripheral delivery of BBB-targeted iduronidase. CNS, HSC, MPS I
82  2014 Platelets are efficient and protective depots for storage, distribution, and delivery of lysosomal enzyme in mice with Hurler syndrome. HSCs, MPS I
83  2014 Structural and clinical implications of amino acid substitutions in alpha-L-iduronidase: insight into the basis of mucopolysaccharidosis type I. MPS I, RMSD
84  2014 [Hurler syndrome: early diagnosis and treatment]. MPS I
85  2013 A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan. MPS I
86  2013 Alterations of membrane lipids and in gene expression of ganglioside metabolism in different brain structures in a mouse model of mucopolysaccharidosis type I (MPS I). GAGs, KO, MPS I
87  2013 An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life. MPS I
88  2013 Characterisation of the T cell and dendritic cell repertoire in a murine model of mucopolysaccharidosis I (MPS I). DC, DS, MPS I, WT
89  2013 Characterization and downstream mannose phosphorylation of human recombinant alpha-L-iduronidase produced in Arabidopsis complex glycan-deficient (cgl) seeds. cgl, CHO, M6P, MPS
90  2013 Characterization of alpha-l-Iduronidase (Aldurazyme) and its complexes. ---
91  2013 Chloramphenicol enhances IDUA activity on fibroblasts from mucopolysaccharidosis I patients. MPS I, SCRT
92  2013 Considering Fabry, but Diagnosing MPS I: Difficulties in the Diagnostic Process. MPS I
93  2013 Engineering a lysosomal enzyme with a derivative of receptor-binding domain of apoE enables delivery across the blood-brain barrier. APOE, BBB, MPS
94  2013 IgG-enzyme fusion protein: pharmacokinetics and anti-drug antibody response in rhesus monkeys. ADA, BBB, HIR, mAb, MPS I
95  2013 Insights into mucopolysaccharidosis I from the structure and action of alpha-L-iduronidase. MPS I
96  2013 Residual alpha-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients. ---
97  2013 Retroviral-vector-mediated gene therapy to mucopolysaccharidosis I mice improves sensorimotor impairments and other behavioral deficits. GAG, LTR, MPS I, SIN
98  2013 Screening of lysosomal storage disorders: application of the online trapping-and-cleanup liquid chromatography/mass spectrometry method for mucopolysaccharidosis I. ERT, LSDs, MPS I
99  2012 Apoptosis status and proliferative activity in mucopolysaccharidosis type I mice tongue mucosa cells. MPS I
100  2012 Encapsulated engineered myoblasts can cure Hurler syndrome: preclinical experiments in the mouse model. MPS I