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This bibliography contains links to literature and PubMed abstracts on topics related to Pompe Disease, including diagnosis, comorbidities, and disease registry analyses.


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 Sep-Oct;113(1-2):84-91. Pediatr Res. 2008 Nov;64(5):550-5.
https://www.ncbi.nlm.nih.gov/pubmed/25085280


Kishnani PS, Amartino HM, Lindberg C, Miller TM, Wilson A, Keutzer J; Pompe Registry Boards of Advisors. Timing of diagnosis of patients with Pompe disease: data from the Pompe registry. Am J Med Genet A. 2013 Oct;161A(10):2431-43.
https://www.ncbi.nlm.nih.gov/pubmed/23997011


Roberts M, Kishnani PS, van der Ploeg AT, Müller-Felber W, Merlini L, Prasad S, Case LE. The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe Registry. Mol Genet Metab. 2011 Dec;104(4):574-82.
https://www.ncbi.nlm.nih.gov/pubmed/21930409/


Wokke JH, Escolar DM, Pestronk A, Jaffe KM, Carter GT, van den Berg LH, Florence JM, Mayhew J, Skrinar A, Corzo D, Laforet P. Clinical features of late-onset Pompe disease: a prospective cohort study. Muscle Nerve. 2008 Oct;38(4):1236-45.
https://www.ncbi.nlm.nih.gov/pubmed/18816591/


Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D; Infantile-Onset Pompe Disease Natural History Study Group. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr. 2006 May;148(5):671-676.
https://www.ncbi.nlm.nih.gov/pubmed/16737883


 

 

 

 

 

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Last Updated: Mar 7, 2019