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S Sharma, R Arya, KN Raju, A Kumar… - Journal of Child …, 2011 - jcn.sagepub.com
Abstract A 5-year-old boy who presented with progressive ataxia, neuroregression, and worsening
with febrile illnesses is described. He also had myoclonic jerks and ptosis. His elder sister had
died of a similar illness. Serial magnetic resonance imaging of the brain demonstrated ...
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NWR Slingerland, JR Polling, CM van Gelder… - Orbit, 2011 - informahealthcare.com
Pompe disease, also referred to as glycogen-storage disease type II or acid maltase deficiency
(OMIM #232300), is an autosomal recessive disorder caused by mutations in the acid α-glucosidase
(GAA) gene located on chromosome 17q25.2-q25.3. The disease affects people from all ...
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A Savar, M Connor… - Ophthalmic Plastic & …, 2011 - journals.lww.com
Wolters Kluwer Health may email you for journal alerts and information, but is committed to maintaining
your privacy and will not share your personal information without your express consent. For more
information, please refer to our Privacy Policy. ... Skip Navigation Links Home > Current ...
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J Melicher… - Evaluation and Management of Blepharoptosis, 2011 - Springer
Abstract The purpose of this chapter is to discuss the risk factors for ptosis surgery failure. Preoperative
assessment to identify patients with marginal reflex distance < 0 mm, poor levator excursion,
and preoperative eyelid laxity should be performed. Treatment of eyelid laxity with lateral ...
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BC Lim, WY Park, EJ Seo, KJ Kim… - Journal of Child …, 2011 - jcn.sagepub.com
Abstract We report a case carrying a de novo interstitial deletion of chromosome 3q22-q25. The
clinical phenotype of this case included blepharophimosis/ptosis/epicanthus inversus
syndrome, Dandy-Walker malformation, and global developmental delay. Contig- uous ...
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