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.
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.
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.
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.
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.
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.
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.
Glycogen storage disease type II: clinical overview.
Di Rocco M, Buzzi D, Tarò M.
Acta Myol. 2007 Jul;26(1):42-4.
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.
Infantile-onset Pompe disease: Diagnosis and management.
Bay LB, Denzler I, Durand C, Eiroa H, Frabasil J, Fainboim A, Maxit C, Schenone A, Spécola N.
Arch Argent Pediatr. 2019 Aug 1;117(4):271-278. doi: 10.5546/aap.2019.eng.271.
