The Outcome of Infantile Onset Pompe Disease in South of Iran

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To Cite : Moravej H, Karamizadeh Z, Paran M. The Outcome of Infantile Onset Pompe Disease in South of Iran, Iran J Pediatr. 2016 ;26(1):e4473. doi: 10.5812/ijp.4473.
1. Background
2. Objectives
3. Patients and Methods
4. Results
5. Discussion
  • 1. Kishnani PS, Beckemeyer AA, Mendelsohn NJ. The new era of Pompe disease: Advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management. Am J Med Genet C Semin Med Genet. 2012; 160C(1): 1-7[DOI][PubMed]
  • 2. Acmg Work Group on Management of Pompe Disease , Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, et al. Pompe disease diagnosis and management guideline. Genet Med. 2006; 8(5): 267-88[DOI][PubMed]
  • 3. Hashemi MS, Ghaedi K. Pompe Disease. 2012; : 2667-73
  • 4. Martiniuk F, Chen A, Mack A, Arvanitopoulos E, Chen Y, Rom WN, et al. Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease. Am J Med Genet. 1998; 79(1): 69-72[PubMed]
  • 5. Fukuda T, Roberts A, Plotz PH, Raben N. Acid alpha-glucosidase deficiency (Pompe disease). Curr Neurol Neurosci Rep. 2007; 7(1): 71-7[PubMed]
  • 6. Slonim AE, Bulone L, Ritz S, Goldberg T, Chen A, Martiniuk F. Identification of two subtypes of infantile acid maltase deficiency. J Pediatr. 2000; 137(2): 283-5[DOI][PubMed]
  • 7. Kishnani PS, Howell RR. Pompe disease in infants and children. J Pediatr. 2004; 144(5 Suppl)-43[DOI][PubMed]
  • 8. Prakalapakorn SG, Proia AD, Yanovitch TL, DeArmey S, Mendelsohn NJ, Aleck KA, et al. Ocular and histologic findings in a series of children with infantile pompe disease treated with enzyme replacement therapy. J Pediatr Ophthalmol Strabismus. 2014; 51(6): 355-62[DOI][PubMed]
  • 9. van der Beek NA, Hagemans ML, van der Ploeg AT, Reuser AJ, van Doorn PA. Pompe disease (glycogen storage disease type II): Clinical features and enzyme replacement therapy. Acta Neurol Belg. 2006; 106(2): 82-6[PubMed]
  • 10. Kishnani PS, Amartino HM, Lindberg C, Miller TM, Wilson A, Keutzer J. Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry. Mol Genet Metab. 2014; 113(1-2): 84-91[DOI][PubMed]
  • 11. Gungor D, de Vries JM, Hop WC, Reuser AJ, van Doorn PA, van der Ploeg AT, et al. Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy. Orphanet J Rare Dis. 2011; 6: 34[DOI][PubMed]
  • 12. van der Ploeg AT, Reuser AJ. Pompe's disease. Lancet. 2008; 372(9646): 1342-53[DOI][PubMed]
  • 13. Hirschhorn R, Reuser AJ. The metabolic and molecular bases of inherited disease. 2001; : 3389-420
  • 14. Nicolino M, Byrne B, Wraith JE, Leslie N, Mandel H, Freyer DR, et al. Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet Med. 2009; 11(3): 210-9[DOI][PubMed]
  • 15. Kishnani PS, Beckemeyer AA. New therapeutic approaches for Pompe disease: Enzyme replacement therapy and beyond. Pediatr Endocrinol Rev. 2014; 12 Suppl 1: 114-24[PubMed]
  • 16. Banugaria SG, Prater SN, Patel TT, Dearmey SM, Milleson C, Sheets KB, et al. Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: A step towards improving the efficacy of ERT. PLoS One. 2013; 8(6)[DOI][PubMed]
  • 17. Messinger YH, Mendelsohn NJ, Rhead W, Dimmock D, Hershkovitz E, Champion M, et al. Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease. Genet Med. 2012; 14(1): 135-42[DOI][PubMed]
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