Results 1 - 20 of 2,165 for All Library Resources
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| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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| 1 |
Material Type: Article
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Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe RegistryOrphanet journal of rare diseases, 2023-12, Vol.18 (1), p.381-381, Article 381 [Peer Reviewed Journal]2023. The Author(s). ;COPYRIGHT 2023 BioMed Central Ltd. ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-023-02981-2 ;PMID: 38057861Full text available |
| 2 |
Material Type: Article
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Late-onset Pompe disease - literature review and summary of current knowledgeQuality in Sport, 2023-01, Vol.9 (1), p.11-18 [Peer Reviewed Journal]ISSN: 2450-3118 ;EISSN: 2450-3118 ;DOI: 10.12775/QS.2023.09.01.001Full text available |
| 3 |
Material Type: Article
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Rescue of Advanced Pompe Disease in Mice with Hepatic Expression of Secretable Acid α-GlucosidaseMolecular therapy, 2020-09, Vol.28 (9), p.2056-2072 [Peer Reviewed Journal]2020 The Authors ;Attribution - NonCommercial ;2020 The Authors 2020 ;ISSN: 1525-0016 ;EISSN: 1525-0024 ;DOI: 10.1016/j.ymthe.2020.05.025 ;PMID: 32526204Full text available |
| 4 |
Material Type: Article
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Clinical efficacy of the enzyme replacement therapy in patients with late-onset Pompe disease: a systematic review and a meta-analysisJournal of neurology, 2022-02, Vol.269 (2), p.733-741 [Peer Reviewed Journal]The Author(s) 2021 ;2021. The Author(s). ;The Author(s) 2021. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 0340-5354 ;EISSN: 1432-1459 ;DOI: 10.1007/s00415-021-10526-5 ;PMID: 33851281Full text available |
| 5 |
Material Type: Article
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Pompe disease, a late-onset – misleading form of diagnosis in a patient with persistent hepatic cytolysis syndromeRevista română de pediatrie, 2020-06, Vol.69 (2), p.162-165 [Peer Reviewed Journal]ISSN: 1454-0398 ;EISSN: 2069-6175 ;DOI: 10.37897/RJP.2020.2.16Full text available |
| 6 |
Material Type: Article
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Characteristics of Pompe disease in China: a report from the Pompe registryOrphanet journal of rare diseases, 2019-04, Vol.14 (1), p.78-78, Article 78 [Peer Reviewed Journal]COPYRIGHT 2019 BioMed Central Ltd. ;COPYRIGHT 2019 BioMed Central Ltd. ;2019. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;The Author(s). 2019 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-019-1054-0 ;PMID: 30943998Full text available |
| 7 |
Material Type: Article
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Long‐term follow‐up of 64 children with classical infantile‐onset Pompe disease since 2004: a French real‐life observational studyEuropean journal of neurology, 2023-09, Vol.30 (9), p.2828-2837 [Peer Reviewed Journal]Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 1351-5101 ;EISSN: 1468-1331 ;DOI: 10.1111/ene.15894 ;PMID: 37235686Digital Resources/Online E-Resources |
| 8 |
Material Type: Article
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Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment startJournal of neurology, 2020-10, Vol.267 (10), p.3038-3053 [Peer Reviewed Journal]The Author(s) 2020 ;ISSN: 0340-5354 ;EISSN: 1432-1459 ;DOI: 10.1007/s00415-020-09936-8 ;PMID: 32524257Full text available |
| 9 |
Material Type: Article
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Quantitative whole‐body magnetic resonance imaging in children with Pompe disease: Clinical tools to evaluate severity of muscle diseaseJIMD reports, 2021-01, Vol.57 (1), p.94-101 [Peer Reviewed Journal]2020 The Authors. published by John Wiley & Sons Ltd on behalf of SSIEM. ;2020 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM. ;ISSN: 2192-8312 ;ISSN: 2192-8304 ;EISSN: 2192-8312 ;DOI: 10.1002/jmd2.12174 ;PMID: 33473345Full text available |
| 10 |
Material Type: Article
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From the hypertransaminasemia symptoms to the recognition of late-onset Pompe disease in a 12-year-old boyPediatria polska, 2021, Vol.96 (3), p.220-222 [Peer Reviewed Journal]ISSN: 0031-3939 ;EISSN: 2300-8660 ;DOI: 10.5114/polp.2021.109310Digital Resources/Online E-Resources |
| 11 |
Material Type: Article
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Plain language summary: How the Pompe Registry is helping to identify and explain gene changes in Pompe disease2022 The Authors ;ISSN: 2399-5262 ;EISSN: 2399-5270 ;DOI: 10.2217/frd-2022-0009Digital Resources/Online E-Resources |
| 12 |
Material Type: Article
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Pompe disease - What do we currently know about the disease?Journal of education, health and sport, 2023-02, Vol.13 (4), p.73-82 [Peer Reviewed Journal]ISSN: 2391-8306 ;EISSN: 2391-8306 ;DOI: 10.12775/JEHS.2023.13.04.007Full text available |
| 13 |
Material Type: Article
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Physical training and high protein diet improved muscle strength, parent-reported fatigue and physical quality of life in children with Pompe diseaseinfo:eu-repo/semantics/OpenAccess ;ISSN: 0141-8955 ;EISSN: 1573-2665Digital Resources/Online E-Resources |
| 14 |
Material Type: Article
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Enzyme replacement therapy for infantile‐onset Pompe diseaseCochrane database of systematic reviews, 2017-11, Vol.2017 (12), p.CD011539 [Peer Reviewed Journal]Copyright © 2017 The Cochrane Collaboration. Published by John Wiley & Sons, Ltd. ;EISSN: 1465-1858 ;EISSN: 1469-493X ;DOI: 10.1002/14651858.CD011539.pub2 ;PMID: 29155436Full text available |
| 15 |
Material Type: Article
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Nystagmus in infantile Pompe disease: a new feature?Acta bio-medica de l'Ateneo Parmense, 2020-09, Vol.91 (3), p.e2020083-e2020083 [Peer Reviewed Journal]Copyright: © 2020 ACTA BIO MEDICA SOCIETY OF MEDICINE AND NATURAL SCIENCES OF PARMA 2020 ;ISSN: 0392-4203 ;EISSN: 2531-6745 ;DOI: 10.23750/abm.v91i3.8366 ;PMID: 32921779Full text available |
| 16 |
Material Type: Article
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Expanding the phenotype of late-onset pompe disease: Tongue weakness: A new clinical observationMuscle & nerve, 2011-12, Vol.44 (6), p.897-901 [Peer Reviewed Journal]Copyright © 2011 Wiley Periodicals, Inc. ;2015 INIST-CNRS ;ISSN: 0148-639X ;EISSN: 1097-4598 ;DOI: 10.1002/mus.22202 ;PMID: 21953123 ;CODEN: MUNEDEFull text available |
| 17 |
Material Type: Article
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Survival and long-term outcomes in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysisJournal of Neurology, 2017-04, Vol.264 (4), p.621-630 [Peer Reviewed Journal]Springer-Verlag Berlin Heidelberg 2016 ;Journal of Neurology is a copyright of Springer, 2017. ;ISSN: 0340-5354 ;EISSN: 1432-1459 ;DOI: 10.1007/s00415-016-8219-8 ;PMID: 27372449Full text available |
| 18 |
Material Type: Article
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Diagnostic delay in late‐onset Pompe disease among Chinese patients: A retrospective studyJIMD reports, 2024-01, Vol.65 (1), p.39-46 [Peer Reviewed Journal]2023 The Authors. published by John Wiley & Sons Ltd on behalf of SSIEM. ;2023 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM. ;ISSN: 2192-8312 ;ISSN: 2192-8304 ;EISSN: 2192-8312 ;DOI: 10.1002/jmd2.12404 ;PMID: 38186848Full text available |
| 19 |
Material Type: Article
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Cipaglucosidase alfa-atga: Unveiling new horizons in Pompe disease therapyHealth sciences review (Oxford, England), 2024-06, Vol.11, p.100160, Article 100160 [Peer Reviewed Journal]2024 The Authors ;ISSN: 2772-6320 ;EISSN: 2772-6320 ;DOI: 10.1016/j.hsr.2024.100160Full text available |
| 20 |
Material Type: Book
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Newborn Screening for Pompe DiseaseISBN: 9783036505817 ;ISBN: 3036505814 ;ISBN: 3036505806 ;ISBN: 9783036505800 ;DOI: 10.3390/books978-3-0365-0581-7Full text available |
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