Literature DB >> 20404746

Improvement of bilateral ptosis on higher dose enzyme replacement therapy in Pompe disease.

Tammy L Yanovitch1, Robin Casey, Suhrad G Banugaria, Priya S Kishnani.   

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Year:  2010        PMID： 20404746     DOI： 10.1097/WNO.0b013e3181ce162a

Source DB:  PubMed          Journal:  J Neuroophthalmol        ISSN： 1070-8022            Impact factor:   3.042


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  8 in total

1.  Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation.

Authors:  Ankit K Desai; Crista K Walters; Heidi L Cope; Zoheb B Kazi; Stephanie M DeArmey; Priya S Kishnani
Journal:  Mol Genet Metab       Date:  2017-12-23       Impact factor: 4.797

2.  Ocular and histologic findings in a series of children with infantile pompe disease treated with enzyme replacement therapy.

Authors:  S Grace Prakalapakorn; Alan D Proia; Tammy L Yanovitch; Stephanie DeArmey; Nancy J Mendelsohn; Kyrieckos A Aleck; Priya S Kishnani
Journal:  J Pediatr Ophthalmol Strabismus       Date:  2014-08-20       Impact factor: 1.402

Review 3.  The role of patient advocacy organizations in shaping medical research: the Pompe model.

Authors:  Tiffany House; Kevin O'Donnell; Raymond Saich; Fabio Di Pietro; Ria Broekgaarden; Allan Muir; Thomas Schaller
Journal:  Ann Transl Med       Date:  2019-07

4.  Photographic assessment of eyelid position using a simple measurement tool paired with cell phone photography in a pediatric population.

Authors:  S Grace Prakalapakorn; Marguerite C Weinert; Sandra S Stinnett
Journal:  J AAPOS       Date:  2021-10-14       Impact factor: 1.325

5.  Pulmonary outcome measures in long-term survivors of infantile Pompe disease on enzyme replacement therapy: A case series.

Authors:  Mai K ElMallah; Ankit K Desai; Erica B Nading; Stephanie DeArmey; Richard M Kravitz; Priya S Kishnani
Journal:  Pediatr Pulmonol       Date:  2020-01-03

6.  Small-fiber neuropathy in pompe disease: first reported cases and prospective screening of a clinic cohort.

Authors:  Lisa D Hobson-Webb; Stephanie L Austin; Sneha Jain; Laura E Case; Karla Greene; Priya S Kishnani
Journal:  Am J Case Rep       Date:  2015-04-03

7.  Pompe disease treatment with twice a week high dose alglucoside alfa in a patient with severe dilated cardiomyopathy.

Authors:  Jesa L Landis; Holly Hyland; Steven J Kindel; Ann Punnoose; Gabrielle C Geddes
Journal:  Mol Genet Metab Rep       Date:  2018-05-21

Review 8.  Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature.

Authors:  Aleena A Khan; Laura E Case; Mrudu Herbert; Stephanie DeArmey; Harrison Jones; Kelly Crisp; Kanecia Zimmerman; Mai K ElMallah; Sarah P Young; Priya S Kishnani
Journal:  Genet Med       Date:  2020-01-06       Impact factor: 8.822
  8 in total

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