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glucogen storage disease type Ⅱ ,acid maltase deficiency ,Pompe disease相关文献:
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).
Parenti G, Fecarotta S, Alagia M, Attaianese F, Verde A, Tarallo A, Gragnaniello V, Ziagaki A, Guimaraes MJ, Aguiar P, Hahn A, Azevedo O, Donati MA, Kiec-Wilk B, Scarpa M, van der Beek NAME, Del Toro Riera M, Germain DP, Huidekoper H, van den Hout JMP, van der Ploeg AT; and the MetabERN Subnetwork for Lysosomal Disorders.
Orphanet J Rare Dis. 2024 Nov 1;19(1):408. doi: 10.1186/s13023-024-03373-w.
PMID:39482698
Pompe disease: pathogenesis, molecular genetics and diagnosis.
Taverna S, Cammarata G, Colomba P, Sciarrino S, Zizzo C, Francofonte D, Zora M, Scalia S, Brando C, Curto AL, Marsana EM, Olivieri R, Vitale S, Duro G.
Aging (Albany NY). 2020 Aug 3;12(15):15856-15874. doi: 10.18632/aging.103794. Epub 2020 Aug 3.
PMID:32745073
Glycogen storage diseases.
Hannah WB, Derks TGJ, Drumm ML, Grünert SC, Kishnani PS, Vissing J.
Nat Rev Dis Primers. 2023 Sep 7;9(1):46. doi: 10.1038/s41572-023-00456-z.
PMID:37679331
Pompe Disease: From Basic Science to Therapy.
Kohler L, Puertollano R, Raben N.
Neurotherapeutics. 2018 Oct;15(4):928-942. doi: 10.1007/s13311-018-0655-y.
PMID:30117059
A Comprehensive Update on Late-Onset Pompe Disease.
Labella B, Cotti Piccinelli S, Risi B, Caria F, Damioli S, Bertella E, Poli L, Padovani A, Filosto M.
Biomolecules. 2023 Aug 22;13(9):1279. doi: 10.3390/biom13091279.
PMID:37759679
Pompe's disease.
van der Ploeg AT, Reuser AJ.
Lancet. 2008 Oct 11;372(9646):1342-53. doi: 10.1016/S0140-6736(08)61555-X.
PMID:18929906
Advances in diagnosis and management of Pompe disease.
Davison JE.
J Mother Child. 2020 Oct 2;24(2):3-8. doi: 10.34763/jmotherandchild.20202402si.2001.000002.
PMID:33554498
Advances in Pompe Disease Treatment: From Enzyme Replacement to Gene Therapy.
Colella P.
Mol Diagn Ther. 2024 Nov;28(6):703-719. doi: 10.1007/s40291-024-00733-x. Epub 2024 Aug 12.
PMID:39134822
Pompe disease diagnosis and management guideline.
Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, Crowley JF, Downs S, Howell RR, Kravitz RM, Mackey J, Marsden D, Martins AM, Millington DS, Nicolino M, O'Grady G, Patterson MC, Rapoport DM, Slonim A, Spencer CT, Tifft CJ, Watson MS.
Genet Med. 2006 May;8(5):267-88. doi: 10.1097/01.gim.0000218152.87434.f3.
PMID:16702877
Acid maltase deficiency--Pompe's disease.
Jamil S, Ahmed S, Tariq M.
J Pak Med Assoc. 2011 Aug;61(8):821-3.
PMID:22356012
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