The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients

Author:

Feeney Erin J,Austin Stephanie,Chien Yin-Hsiu,Mandel Hanna,Schoser Benedikt,Prater Sean,Hwu Wuh-Liang,Ralston Evelyn,Kishnani Priya S,Raben Nina

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Pathology and Forensic Medicine

Reference62 articles.

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2. Van der Ploeg AT, Reuser AJ: Pompe’s disease. Lancet 2008, 372: 1342–1353. 10.1016/S0140-6736(08)61555-X

3. Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case L, Crowley JF, Downs S, Howell RR, Kravitz RM, et al.: Pompe disease diagnosis and management guideline. GenetMed 2006, 8: 267–288.

4. Hagemans ML, Hop WJ, Van Doorn PA, Reuser AJ, Van der Ploeg AT: Course of disability and respiratory function in untreated late-onset Pompe disease. Neurology 2006, 66: 581–583. 10.1212/01.wnl.0000198776.53007.2c

5. 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, 38: 1236–1245. 10.1002/mus.21025

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