Literature DB >> 17606892

Ptosis as a feature of late-onset glycogenosis type II.

Sabrina Ravaglia, Alessandra Repetto, Paola De Filippi, Cesare Danesino.   

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Year:  2007        PMID： 17606892     DOI： 10.1212/01.wnl.0000270101.95790.fb

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  4 in total

1.  Airway smooth muscle dysfunction in Pompe (Gaa-/- ) mice.

Authors:  Allison M Keeler; Donghai Liu; Marina Zieger; Lang Xiong; Jeffrey Salemi; Karl Bellvé; Barry J Byrne; David D Fuller; Ronghua ZhuGe; Mai K ElMallah
Journal:  Am J Physiol Lung Cell Mol Physiol       Date:  2017-03-23       Impact factor: 5.464

2.  Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment.

Authors:  Federica Montagnese; E Barca; O Musumeci; S Mondello; A Migliorato; A Ciranni; C Rodolico; P De Filippi; C Danesino; A Toscano
Journal:  J Neurol       Date:  2015-02-12       Impact factor: 4.849

3.  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

4.  Phenotypical variation within 22 families with Pompe disease.

Authors:  Stephan C A Wens; Carin M van Gelder; Michelle E Kruijshaar; Juna M de Vries; Nadine A M E van der Beek; Arnold J J Reuser; Pieter A van Doorn; Ans T van der Ploeg; Esther Brusse
Journal:  Orphanet J Rare Dis       Date:  2013-11-19       Impact factor: 4.123
  4 in total

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