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For: Bellotti AS, Andreoli L, Ronchi D, Bresolin N, Comi GP, Corti S. Molecular Approaches for the Treatment of Pompe Disease. Mol Neurobiol 2020;57:1259-80. [PMID: 31713816 DOI: 10.1007/s12035-019-01820-5] [Citation(s) in RCA: 16] [Impact Index Per Article: 2.7] [Reference Citation Analysis] [What about the content of this article? (0)] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/26/2019] [Accepted: 10/23/2019] [Indexed: 12/14/2022]
Number Cited by Other Article(s)
1
Iacono R, Paragliola FMP, Strazzulli A, Moracci M. A stable GH31 α-glucosidase as a model system for the study of mutations leading to human glycogen storage disease type II. J Enzyme Inhib Med Chem 2025;40:2468859. [PMID: 39995088 PMCID: PMC11864002 DOI: 10.1080/14756366.2025.2468859] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/23/2024] [Revised: 01/27/2025] [Accepted: 02/11/2025] [Indexed: 02/26/2025]  Open
2
Yin Y, Jiang J, Jin Y. A Real-World Data Analysis of Alglucosidase Alfa in the FDA Adverse Event Reporting System (FAERS) Database. Drugs R D 2025;25:57-66. [PMID: 39833603 PMCID: PMC12011682 DOI: 10.1007/s40268-024-00502-5] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 12/10/2024] [Indexed: 01/22/2025]  Open
3
Peruzzo P, Bergamin N, Bon M, Cappelli S, Longo A, Goina E, Stuani C, Buratti E, Dardis A. Rescue of common and rare exon 2 skipping variants of the GAA gene using modified U1 snRNA. Mol Med 2025;31:45. [PMID: 39905333 PMCID: PMC11796170 DOI: 10.1186/s10020-025-01090-z] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/09/2024] [Accepted: 01/16/2025] [Indexed: 02/06/2025]  Open
4
Feng Q, Zhang MQ, Ba CX, Zhang YQ. Clinical features and genetic analysis of 5 cases of infantile-type glycogen storage disease type II: Case reports. Medicine (Baltimore) 2024;103:e39534. [PMID: 39213226 PMCID: PMC11365635 DOI: 10.1097/md.0000000000039534] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/08/2024] [Revised: 08/05/2024] [Accepted: 08/12/2024] [Indexed: 09/04/2024]  Open
5
Townsend M, Jeewa A, Khoury M, Cunningham C, George K, Conway J. Unique Aspects of Hypertrophic Cardiomyopathy in Children. Can J Cardiol 2024;40:907-920. [PMID: 38244986 DOI: 10.1016/j.cjca.2024.01.013] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/11/2023] [Revised: 01/03/2024] [Accepted: 01/14/2024] [Indexed: 01/22/2024]  Open
6
Weiss L, Carrer M, Shmara A, Cheng C, Yin H, Ta L, Boock V, Fazeli Y, Chang M, Paguio M, Lee J, Yu H, Martin A, Raben N, Weiss J, Grossman T, Jafar-Nejad P, Kimonis V. Skeletal muscle effects of antisense oligonucleotides targeting glycogen synthase 1 in a mouse model of Pompe disease. BIORXIV : THE PREPRINT SERVER FOR BIOLOGY 2024:2024.02.22.580414. [PMID: 38464319 PMCID: PMC10925133 DOI: 10.1101/2024.02.22.580414] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 03/12/2024]
7
Zhang M, Niu J, Xu M, Wei E, Liu P, Sheng G. Interplay between mitochondrial dysfunction and lysosomal storage: challenges in genetic metabolic muscle diseases with a focus on infantile onset Pompe disease. Front Cardiovasc Med 2024;11:1367108. [PMID: 38450370 PMCID: PMC10916335 DOI: 10.3389/fcvm.2024.1367108] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/08/2024] [Accepted: 02/08/2024] [Indexed: 03/08/2024]  Open
8
Hahn P, Siefen RG, Benz K, Jackowski J, Köhler C, Lücke T. [Diagnosis and Management of Late-Onset Pompe Disease]. FORTSCHRITTE DER NEUROLOGIE-PSYCHIATRIE 2024;92:33-40. [PMID: 37494148 DOI: 10.1055/a-2095-2977] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 07/28/2023]
9
Luca AC, Pădureț IA, Țarcă V, David SG, Mîndru DE, Roșu ST, Roșu EV, Adumitrăchioaiei H, Bernic J, Cojocaru E, Țarcă E. Nutritional Approach in Selected Inherited Metabolic Cardiac Disorders-A Concise Summary of Available Scientific Evidence. Nutrients 2023;15:4795. [PMID: 38004189 PMCID: PMC10675151 DOI: 10.3390/nu15224795] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/20/2023] [Revised: 11/13/2023] [Accepted: 11/14/2023] [Indexed: 11/26/2023]  Open
10
Ashrafi AH, Mazwi M, Sweeney N, van Dorn CS, Armsby LB, Eghtesady P, Ringle M, Justice LB, Gray SB, Levy V. Preoperative Management of Neonates With Congenital Heart Disease. Pediatrics 2022;150:e2022056415F. [PMID: 36317975 DOI: 10.1542/peds.2022-056415f] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 08/29/2022] [Indexed: 11/05/2022]  Open
11
Carrasco-Rozas A, Fernández-Simón E, Suárez-Calvet X, Piñol-Jurado P, Alonso-Pérez J, de Luna N, Schoser B, Meinke P, Domínguez-González C, Hernández-Laín A, Paradas C, Rivas E, Illa I, Olivé M, Gallardo E, Díaz-Manera J. BNIP3 Is Involved in Muscle Fiber Atrophy in Late-Onset Pompe Disease Patients. THE AMERICAN JOURNAL OF PATHOLOGY 2022;192:1151-1166. [PMID: 35605642 DOI: 10.1016/j.ajpath.2022.05.003] [Citation(s) in RCA: 3] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Subscribe] [Scholar Register] [Received: 02/07/2022] [Revised: 04/25/2022] [Accepted: 05/04/2022] [Indexed: 11/25/2022]
12
Zhang Y, Zhang C, Shu JB, Zhang F. Atypical infantile-onset Pompe disease with good prognosis from mainland China: A case report. World J Clin Cases 2022;10:3278-3283. [PMID: 35603335 PMCID: PMC9082720 DOI: 10.12998/wjcc.v10.i10.3278] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/20/2021] [Revised: 01/29/2022] [Accepted: 02/20/2022] [Indexed: 02/06/2023]  Open
13
Karadağ Gürel A, Gürel S. To detect potential pathways and target genes in infantile Pompe patients using computational analysis. BIOIMPACTS 2022;12:89-105. [PMID: 35411297 PMCID: PMC8905584 DOI: 10.34172/bi.2022.23467] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 10/20/2020] [Revised: 02/08/2021] [Accepted: 02/13/2021] [Indexed: 11/21/2022]
14
Pharmacological Chaperone Therapy for Pompe Disease. Molecules 2021;26:molecules26237223. [PMID: 34885805 PMCID: PMC8659197 DOI: 10.3390/molecules26237223] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/05/2021] [Revised: 11/25/2021] [Accepted: 11/26/2021] [Indexed: 11/17/2022]  Open
15
Fatehi F, Ashrafi MR, Babaee M, Ansari B, Beiraghi Toosi M, Boostani R, Eshraghi P, Fakharian A, Hadipour Z, Haghi Ashtiani B, Moravej H, Nilipour Y, Sarraf P, Sayadpour Zanjani K, Nafissi S. Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus. Front Neurol 2021;12:739931. [PMID: 34621239 PMCID: PMC8490649 DOI: 10.3389/fneur.2021.739931] [Citation(s) in RCA: 8] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/12/2021] [Accepted: 08/16/2021] [Indexed: 01/12/2023]  Open
16
Shen B, Singla RK. Secondary Metabolites as Treatment of Choice for Metabolic Disorders and Infectious Diseases & their Metabolic Profiling-Part 2. Curr Drug Metab 2021;21:1070-1071. [PMID: 33413055 DOI: 10.2174/138920022114201230142204] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/08/2023]
17
Bor M, Ilhan O, Gumus E, Ozkan S, Karaca M. A Newborn with Infantile-Onset Pompe Disease Improving after Administration of Enzyme Replacement Therapy: Case Report. J Pediatr Intensive Care 2020;11:62-66. [DOI: 10.1055/s-0040-1714099] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/06/2020] [Accepted: 05/26/2020] [Indexed: 10/23/2022]  Open
18
Tran ML, Génisson Y, Ballereau S, Dehoux C. Second-Generation Pharmacological Chaperones: Beyond Inhibitors. Molecules 2020;25:molecules25143145. [PMID: 32660097 PMCID: PMC7397201 DOI: 10.3390/molecules25143145] [Citation(s) in RCA: 34] [Impact Index Per Article: 6.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/03/2020] [Revised: 06/29/2020] [Accepted: 07/05/2020] [Indexed: 02/06/2023]  Open
19
Didiasova M, Banning A, Brennenstuhl H, Jung-Klawitter S, Cinquemani C, Opladen T, Tikkanen R. Succinic Semialdehyde Dehydrogenase Deficiency: An Update. Cells 2020;9:cells9020477. [PMID: 32093054 PMCID: PMC7072817 DOI: 10.3390/cells9020477] [Citation(s) in RCA: 24] [Impact Index Per Article: 4.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/26/2020] [Revised: 02/14/2020] [Accepted: 02/17/2020] [Indexed: 02/06/2023]  Open
20
Farah BL, Yen PM, Koeberl DD. Links between autophagy and disorders of glycogen metabolism - Perspectives on pathogenesis and possible treatments. Mol Genet Metab 2020;129:3-12. [PMID: 31787497 PMCID: PMC7836271 DOI: 10.1016/j.ymgme.2019.11.005] [Citation(s) in RCA: 21] [Impact Index Per Article: 4.2] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/17/2019] [Revised: 11/18/2019] [Accepted: 11/19/2019] [Indexed: 01/17/2023]
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