Ptosis in pompe disease: Common genetic background in infantile and adult series

Journal of Neuro-Ophthalmology

Volumn 30, Issue 4, 2010, Pages 389-390

  Ravaglia, Sabrina ^a   Moglia, Arrigo ^a   Garaghani, Kolsoum Saeidi ^a   Danesino, Cesare ^a  

^a UNIVERSITY OF PAVIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ENZYME INDUCING AGENT;

AGE; ALLELE; COGNITIVE DEFECT; DISEASE ASSOCIATION; DISEASE COURSE; ENZYME REPLACEMENT; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 2; HEARING LOSS; HUMAN; INFANT DISEASE; LETTER; MYOPATHY; PRIORITY JOURNAL; PTOSIS;

ALPHA-GLUCOSIDASES; BLEPHAROPTOSIS; ENZYME REPLACEMENT THERAPY; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; MALE;

EID: 78650508566     PISSN: 10708022     EISSN: None     Source Type: Journal    
DOI: 10.1097/WNO.0b013e3181f9a923     Document Type: Letter

References (3)

1. Yanovitch TL, Casey R, Banugaria SG, Kishnani PS. Improvement of bilateral ptosis on higher dose enzyme replacement therapy in Pompe disease. J Neuroophthalmol. 2010;30:165-166.
2. Yanovitch TL, Banugaria SG, Proia AD, Kishnani PS. Clinical and histologic ocular findings in Pompe disease. J Pediatr Ophthalmol Strabismus. 2010;47:34-40. doi: 10.3928/ 01913913-20100106-08.
3. Groen WB, Leen WG, Vos AM, Cruysberg JR, van Doorn PA, van Engelen BG. Ptosis as a feature of late-onset glycogenosis type II. Neurology. 2006;67:2261-2262.