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■ Abbreviation / Long Form : MPS II / Mucopolysaccharidosis type II

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Total Number of Papers: 145
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Abbreviation:   MPS II  (>> Co-occurring Abbreviation)
Long Form:   Mucopolysaccharidosis type II
 Abbreviation Variation
 Long Form Variation
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No. Year Title Co-occurring Abbreviation
2022 A new strategy of desensitization in mucopolysaccharidosis type II disease treated with idursulfase therapy: A case report and review of the literature. ERT, IARs
2022 A novel preclinical model of mucopolysaccharidosis type II for developing human hematopoietic stem cell gene therapy. GT, HSC, IDS
2022 Diagnosis of patients with mucopolysaccharidosis type II via RNA sequencing. ---
2022 Glycosaminoglycan signatures in body fluids of mucopolysaccharidosis type II mouse model under long-term enzyme replacement therapy. CS, DS, ERT, HA, HS, IDS, Ids-ko, WT
2022 Iduronate-2-sulfatase interactome: validation by yeast two-hybrid assay. BBB, IDS
2022 iPS-derived neural stem cells for disease modeling and evaluation of therapeutics for mucopolysaccharidosis type II. DT, GAGs, HPBCD, IDS, iPSC
2022 Molecular architecture determines brain delivery of a transferrin receptor-targeted lysosomal enzyme. BBB, ETV, IDS, TfR
2022 Mutational spectrum of the iduronate-2-sulfatase gene in Mexican patients with Hunter syndrome. IDS
2022 Prenatal diagnosis of mucopolysaccharidoses type II by two-dimensional electrophoresis and mass spectrometry in amniotic fluid. ---
10  2022 [Genetic analysis and prenatal diagnosis of a Chinese pedigree affected with mucopolysaccharidosis type II due to deletion of exon 2 of IDS gene]. MLPA
11  2022 [Pharmacological property, mechanism of action and clinical study results of Pabinafusp Alfa (Genetical Recombination) (IZCARGO® I.V. Infusion 10 mg) as the therapeutic for Mucopolysaccharidosis type-II (Hunter syndrome)]. BBB, CNS, ERT, HS, hTfR, IDS
12  2021 A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide. ERT, FD, GD, LSDs, MEC
13  2021 A molecular genetics view on Mucopolysaccharidosis Type II. GAGs, IDS
14  2021 Convergent molecular mechanisms underlying cognitive impairment in mucopolysaccharidosis type II. CNS, GAGs, IDS
15  2021 Detailed pedigree analyses and prenatal diagnosis for a family with mucopolysaccharidosis type II. IDS
16  2021 Early and late brain resonance findings of two siblings with Hunter syndrome. IDS, MRI
17  2021 Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal setting. IDS
18  2021 Gene Therapy for Mucopolysaccharidosis Type II-A Review of the Current Possibilities. ---
19  2021 Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome. ---
20  2021 Identification and structure characterization of novel IDS variants causing mucopolysaccharidosis type II: A retrospective analysis of 30 Chinese children. IDS, WES
21  2021 Iduronate-2-sulfatase transport vehicle rescues behavioral and skeletal phenotypes in a mouse model of Hunter syndrome. GAGs, IDS
22  2021 Loss of Function of Mutant IDS Due to Endoplasmic Reticulum-Associated Degradation: New Therapeutic Opportunities for Mucopolysaccharidosis Type II. ER, ERAD, IDS
23  2021 Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis II. AR, AS, ERT, IVSd, LVMI, LVPWd, MR, MS
24  2021 Real world long-term outcomes in patients with mucopolysaccharidosis type II: A retrospective cohort study. ADA, ERT, HSCT, uGAG
25  2021 The patient journey of patients with Fabry disease, Gaucher disease and Mucopolysaccharidosis type II: A German-wide telephone survey. FD, GD, LSD
26  2020 Effect of Mutated ids Overexpression on IDS Enzyme Activity and Developmental Phenotypes in Zebrafish Embryos: A Valuable Index for Assessing Critical Point-Mutations Associated with Mucopolysaccharidosis Type II Occurrence in Humans. h-IDS, IDS, z-ids
27  2020 Efficient engraftment of genetically modified cells is necessary to ameliorate central nervous system involvement of murine model of mucopolysaccharidosis type II by hematopoietic stem cell targeted gene therapy. CNS, ERT, GAGs, HSCGT, HSCT, IDS, LSD
28  2020 Evidence for inflammasome activation in the brain of mucopolysaccharidosis type II mice. DAMPs, IDS
29  2020 Modeling Mucopolysaccharidosis Type II in the Fruit Fly by Using the RNA Interference Approach. IDS, RNAi
30  2020 Natural history of cognitive development in neuronopathic mucopolysaccharidosis type II (Hunter syndrome): Contribution of genotype to cognitive developmental course. ---
31  2020 Safety and efficacy of idursulfase in the treatment of mucopolysaccharidosis II (Hunter syndrome): a post-marketing study in Japan. 6MWT, UA
32  2020 The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients. GAGs, IDS
33  2020 Validation and Implementation of a Highly Sensitive and Efficient Newborn Screening Assay for Mucopolysaccharidosis Type II. DBS, IDS, LSD, MSPHL, RUSP
34  2020 [Identification of a novel splicing variant of IDS gene in a pedigree affected with type II glycosaminoglycan product storage disease]. RT-PCR
35  2019 Assessing the impact on caregivers caring for patients with rare pediatric lysosomal storage diseases: development of the Caregiver Impact Questionnaire. CIQ, LSDs, MLD, MPS IIIA
36  2019 Autophagy in the Central Nervous System and Effects of Chloroquine in Mucopolysaccharidosis Type II Mice. ATP, CNS, IDS, LSD
37  2019 Birth of a healthy baby after preimplantation genetic diagnosis in a carrier of mucopolysaccharidosis type II: The first case in Korea. PGD
38  2019 Calnexin promotes the folding of mutant iduronate 2-sulfatase related to mucopolysaccharidosis type II. CNS, CNX, ER, ERAD, IDS, rIDS
39  2019 Distribution of heparan sulfate and dermatan sulfate in mucopolysaccharidosis type II mouse tissues pre- and post-enzyme-replacement therapy determined by UPLC-MS/MS. DS, HS
40  2019 Generation of an induced pluripotent stem cell line (TRNDi008-A) from a Hunter syndrome patient carrying a hemizygous 208insC mutation in the IDS gene. I2S, iPSC
41  2019 Genetic analysis of 63 Chinese patients with mucopolysaccharidosis type II: Functional characterization of seven novel IDS variants. IDS
42  2019 Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience. I2S
43  2019 Projected Retained Ability Score (PRAS): A New Methodology for Quantifying Absolute Change in Norm-Based Psychological Test Scores Over Time. DAS-II, GCA, PRAS
44  2019 Proteomic approaches in the discovery of potential urinary biomarkers of mucopolysaccharidosis type II. GAGs, IDS
45  2019 Targeting Brain Disease in MPSII: Preclinical Evaluation of IDS-Loaded PLGA Nanoparticles. IDS
46  2018 Chaperone effect of sulfated disaccharide from heparin on mutant iduronate-2-sulfatase in mucopolysaccharidosis type II. D2S0, GAGs, IDS, rhIDS
47  2018 Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the hunter outcome survey (HOS). HOS
48  2018 Diagnosis and follow-up of patients with Hunter syndrome in Spain: A Delphi consensus. ERT
49  2018 Dose-Dependent Prevention of Metabolic and Neurologic Disease in Murine MPS II by ZFN-Mediated InVivo Genome Editing. ERT, GAGs, hIDS, IDS, ZFN
50  2018 Effectiveness of Early Hematopoietic Stem Cell Transplantation in Preventing Neurocognitive Decline inMucopolysaccharidosis Type II: A Case Series. ERT, HSCT
51  2018 FGF signaling deregulation is associated with early developmental skeletal defects in animal models for mucopolysaccharidosis type II (MPSII). BM, ERT, GAGs
52  2018 FGF signaling deregulation is associated with early developmental skeletal defects in animal models for mucopolysaccharidosis type II (MPSII). ---
53  2018 Hunter Syndrome: Is It Time to Make It Part of Newborn Screening? ---
54  2018 Shutdown of ER-associated degradation pathway rescues functions of mutant iduronate 2-sulfatase linked to mucopolysaccharidosis type II. ER, ERAD, IDS, WT
55  2018 The pathogenesis of lysosomal storage disorders: beyond the engorgement of lysosomes to abnormal development and neuroinflammation. Chol, GAGs, LSDs, NPC
56  2017 Cognitive and behaviour profiles of children with mucopolysaccharidosis Type II. ERT
57  2017 Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype. IDS
58  2017 Identification of age-dependent motor and neuropsychological behavioural abnormalities in a mouse model of Mucopolysaccharidosis Type II. ---
59  2017 Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS). HOS
60  2017 Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II. GAGs, IDS, iPSC
61  2017 Perturbations in cell signaling elicit early cardiac defects in mucopolysaccharidosis type II. GAGs, IDS, Shh
62  2016 A longitudinal study of emotional adjustment, quality of life and adaptive function in attenuated MPS II. ---
63  2016 Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012. ---
64  2016 CNS-directed gene therapy for the treatment of neurologic and somatic mucopolysaccharidosis type II (Hunter syndrome). BBB, ERT, IDS
65  2016 Delivery of an Adeno-Associated Virus Vector into Cerebrospinal Fluid Attenuates Central Nervous System Disease in Mucopolysaccharidosis Type II Mice. CNS, CSF, IDS
66  2016 Generation of human induced pluripotent stem cell (iPSC) line from an unaffected female carrier of Mucopolysaccharidosis type II (MPS II) disorder. iPSC, PBMCs
67  2016 Generation of Mucopolysaccharidosis type II (MPS II) human induced pluripotent stem cell (iPSC) line from a 1-year-old male with pathogenic IDS mutation. IDS, iPSC, PBMCs
68  2016 Generation of Mucopolysaccharidosis type II (MPS II) human induced pluripotent stem cell (iPSC) line from a 3-year-old male with pathogenic IDS mutation. IDS, iPSC, PBMCs
69  2016 Generation of Mucopolysaccharidosis type II (MPS II) human induced pluripotent stem cell (iPSC) line from a 7-year-old male with pathogenic IDS mutation. IDS, iPSC, PBMCs
70  2016 Glial degeneration with oxidative damage drives neuronal demise in MPSII disease. IDS, NSCs
71  2016 Non-myeloablative preconditioning with ACK2 (anti-c-kit antibody) is efficient in bone marrow transplantation for murine models of mucopolysaccharidosis type II. GAGs, HSCT, IDS
72  2016 Oxidative and nitrative stress and pro-inflammatory cytokines in Mucopolysaccharidosis type II patients: effect of long-term enzyme replacement therapy and relation with glycosaminoglycan accumulation. diTyr, ERT, GAG, NO
73  2016 Resolution of Hydronephrosis in a Patient With Mucopolysaccharidosis Type II With Enzyme Replacement Therapy. ---
74  2016 Severe tracheal and bronchial collapse in adults with type II mucopolysaccharidosis. GAG
75  2016 Ultrasonographic evaluation of the median nerve at the level of the carpal tunnel outlet and mid forearm in patients with type II Mucopolysaccharidosis. CTO, US
76  2016 Wide allelic heterogeneity with predominance of large IDS gene complex rearrangements in a sample of Mexican patients with Hunter syndrome. ---
77  2016 X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female. iPSC
78  2015 A method for measuring disease-specific iduronic acid from the non-reducing end of glycosaminoglycan in mucopolysaccharidosis type II mice. GAGs, IDS, rhIDS, rhIDUA
79  2015 A rare case of mucopolysaccharidosis: hunter syndrome. GAGs, MPSs
80  2015 Deep Genotyping of the IDS Gene in Colombian Patients with Hunter Syndrome. ---
81  2015 Hematopoietic Stem Cell Gene Therapy Corrects Neuropathic Phenotype in Murine Model of Mucopolysaccharidosis Type II. BMT, GAGs, HSC, IDS
82  2015 [Necrotizing pneumonia associated with influenza A H1N1 infection in a child with mucopolysaccharidosis type II. Case report]. ---
83  2014 Cognitive, medical, and neuroimaging characteristics of attenuated mucopolysaccharidosis type II. ---
84  2014 Diagnosing lysosomal storage disorders: mucopolysaccharidosis type II. DBS, GAGs, IDS
85  2014 Effect of donor chimerism to reduce the level of glycosaminoglycans following bone marrow transplantation in a murine model of mucopolysaccharidosis type II. BMT, GAGs
86  2014 Genetic analysis of 17 children with Hunter syndrome: identification and functional characterization of four novel mutations in the iduronate-2-sulfatase gene. EBV, GAGs, IDS, PMBCs
87  2014 Health-Related Quality of Life in Patients with MPS II. HRQOL
88  2014 Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome). IDS
89  2014 Impact of enzyme replacement therapy on linear growth in Korean patients with mucopolysaccharidosis type II (Hunter syndrome). ERT
90  2014 The NCS-LSD cohort study: a description of the methods and analyses used to assess the long-term effectiveness of enzyme replacement therapy and substrate reduction therapy in patients with lysosomal storage disorders. LSDs, MPS I, NCS-LSD, NPC
91  2014 [Efficacy and safety of idursulfase therapy in patients with mucopolysaccharidosis type II with and without comparison to placebo: systematic review and meta-analysis]. 6MWT, ERT, FVC, IDS
92  2014 [Mutation analysis of mucopolysaccharidosis type II and prenatal diagnosis]. ---
93  2013 Clinical manifestations in female carriers of mucopolysaccharidosis type II: a Spanish cross-sectional study. GAGs, IDS, XCI
94  2013 Determination of 7-ketocholesterol in plasma by LC-MS for rapid diagnosis of acid SMase-deficient Niemann-Pick disease. 7-KC, ASMase, GD, GSDII, KD, MLD, NPC, NPD, SMPD1
95  2013 Effects of idursulfase enzyme replacement therapy for Mucopolysaccharidosis type II when started in early infancy: comparison in two siblings. ERT
96  2013 Enzyme augmentation therapy enhances the therapeutic efficacy of bone marrow transplantation in mucopolysaccharidosis type II mice. BMT, ERT, GAGs
97  2013 Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequence. IDS
98  2013 Home treatment in paediatric patients with Hunter syndrome: the first Italian experience. ERT
99  2013 Improvement of CNS defects via continuous intrathecal enzyme replacement by osmotic pump in mucopolysaccharidosis type II mice. GAG, i.t, IDS, rhIDS
100  2013 MPS II: adaptive behavior of patients and impact on the family system. ---