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glycogen storage disease type II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
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
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
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
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
Glycogen storage disease type II in the Lapland dog.
Walvoort HC.
Vet Q. 1985 Jul;7(3):187-90. doi: 10.1080/01652176.1985.9693981.
PMID:3901497
Therapeutic approaches in glycogen storage disease type II/Pompe Disease.
Schoser B, Hill V, Raben N.
Neurotherapeutics. 2008 Oct;5(4):569-78. doi: 10.1016/j.nurt.2008.08.009.
PMID:19019308
Glycogen storage disease type II: clinical overview.
Di Rocco M, Buzzi D, Tarò M.
Acta Myol. 2007 Jul;26(1):42-4.
PMID:17915568
Pompe disease (glycogen storage disease type II): clinical features and enzyme replacement therapy.
van der Beek NA, Hagemans ML, van der Ploeg AT, Reuser AJ, van Doorn PA.
Acta Neurol Belg. 2006 Jun;106(2):82-6.
PMID:16898258
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