Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine
Reference58 articles.
1. Hirschhorn R, Reuser AJ (2001) Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency. In: Scriver CR, Vogelstein B, Childs B et al (eds) Metabolic and molecular bases of inherited diseases, 8th edn. McGraw-Hill Medical, New York, pp 3389–3420
2. 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 (2006) Pompe disease diagnosis and management guideline. Genet Med 8(5):267–288. https://doi.org/10.1097/01.gim.0000218152.87434.f3
3. Wens SC, van Gelder CM, Kruijshaar ME, de Vries JM, van der Beek NA, Reuser AJ, van Doorn PA, van der Ploeg AT, Brusse E (2013) Phenotypical variation within 22 families with Pompe disease. Orphanet J Rare Dis 8:182. https://doi.org/10.1186/1750-1172-8-182
4. Lim JA, Li L, Raben N (2014) Pompe disease: from pathophysiology to therapy and back again. Front Aging Neurosci 6:177. https://doi.org/10.3389/fnagi.2014.00177
5. De Filippi P, Saeidi K, Ravaglia S, Dardis A, Angelini C, Mongini T, Morandi L, Moggio M, Di Muzio A, Filosto M, Bembi B, Giannini F, Marrosu G, Rigoldi M, Tonin P, Servidei S, Siciliano G, Carlucci A, Scotti C, Comelli M, Toscano A, Danesino C (2014) Genotype-phenotype correlation in Pompe disease, a step forward. Orphanet J Rare Dis 9:102. https://doi.org/10.1186/s13023-014-0102-z
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