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Meta-Opinion

Meta-opinion: from screening to diagnosis of Pompe disease – a European perspective

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Pages 1075-1078 | Received 09 May 2016, Accepted 23 Aug 2016, Published online: 01 Sep 2016

References

  • van der Ploeg AT, Reuser AJ. Pompe’s disease. Lancet. 2008;372:1342–1353.
  • Hirschhorn R, Reuser AJJ. Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency. In: Scriver C, Beaudet A, Sly W, et al., editors. The metabolic and molecular bases of inherited disease. 8th ed. New York (NY): McGraw-Hill; 2001. p. 3389–3420.
  • Kishnani PS, Hwu W-L, Mandel H, et al. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr. 2006;148:671–676.
  • Van den Hout HMP, Hop W, Van Diggelen OP, et al. The natural course of infantile Pompe’s disease: 20 original cases compared with 133 cases from the literature. Pediatrics. 2003;112(2):332–340.
  • Güngör D, De Vries JM, Hop WC, et al. Survival and associated factors in 268 adults withPompe disease prior to treatment with enzyme replacement therapy. Orphanet J Rare Dis. 2011;6:34.
  • Schüller A, Wenninger S, Strigl-Pill N, et al. Toward deconstructing the phenotype of late-onset Pompe disease. Am J Med Genet C Semin Med Genet. 2012;160C:80–88.
  • Kishnani PS, Amartino HM, Lindberg C, et al. Timing of diagnosis of patients with Pompe disease: data from the Pompe registry. Am J Med Genet A. 2013;161A:2431–2443.
  • Lukacs Z, Nieves Cobos P, Mengel E, et al. Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening. J Inherit Metab Dis. 2010;33(1):43–50.
  • Winchester B, Bali D, Bodamer OA, et al. Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting. Mol Genet Metab. 2008;93(3):275–281.
  • Gutiérrez-Rivas E, Bautista J, Vílchez JJ, et al. Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: a Spanish cohort. Neuromuscul Disord. 2015;25:548–553.
  • Musumeci O, La Marca G, Spada M, et al. LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population. J Neurol Neurosurg Psychiatry. 2016;87:5–11.
  • Palmio J, Auranen M, Kiuru-Enari S, et al. Screening for late-onset Pompe disease in Finland. Neuromuscul Disord. 2014;24:982–985.
  • Spada M, Porta F, Vercelli L, et al. Screening for later-onset Pompe’s disease in patients with paucisymptomatic hyperCKemia. Mol Genet Metab. 2013;109:171–173.
  • Preisler N, Lukacs Z, Vinge L, et al. Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies. Mol Genet Metabol. 2013;110:287–289.
  • Goldstein JL, Young SP, Changela M, et al. Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory. Muscle Nerve. 2009;40:32–36.
  • Pérez-López J, Selva-O’Callaghan A, Grau-Junyent JM, et al. Delayed diagnosis of late-onset Pompe disease in patients with myopathies of unknown origin and/or hyperCKemia. Mol Genet Metab. 2015;114:580–583.
  • Lukacs Z, Nieves Cobos P, Wenninger S, et al. Prevalence of Pompe disease in 3076 patients with hyperCKemia and limb-girdle muscular weakness. Neurology. 2016 May 11;87:295–298.
  • Gelb MH, Scott CR, Turecek F. Newborn screening for lysosomal storage diseases. Clin Chem. 2015;61:335–346.
  • van der Ploeg AT, Clemens PR, Corzo D, et al. A randomized study of alglucosidase alfa in late-onset Pompe’s disease. N Engl J Med. 2010;362(15):1396–1406.
  • Schoser B, Toscano A. Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review. J Neurol. 2013;260:951–959.
  • Chien Y-H, Hwu W-L, Lee N-C. Pompe disease: early diagnosis and early treatment make a difference. Pediatr Neonatol. 2013;54(4):219–227.
  • Liao H-C, Chiang -C-C, Niu D-M, et al. Detecting multiple lysosomal storage diseases by tandem mass spectrometry – a national newborn screening program in Taiwan. Clin Chim Acta. 2014;431:80–86.
  • Scott CR, Elliott S, Buroker N, et al. Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry. J Pediatr. 2013;163(2):498–503.
  • Mechtler TP, Stary S, Metz TF, et al. Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria. Lancet. 2012;379(9813):335–341.
  • Hopkins PV, Campbell C, Klug T, et al. Lysosomal storage disorder screening implementation: findings from the first six months of full population pilot testing in Missouri. J Pediatr. 2015;166(1):172–177.
  • Schoser B, Hill V, Raben N. Therapeutic approaches in glycogen storage disease type II/Pompe disease. Neurotherapeutics. 2008;5:569–578.

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