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 ... Related articles - All 3 versions
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 ... Related articles - All 3 versions
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 ... Related articles - All 4 versions
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 ... Related articles - All 2 versions
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 ... Related articles - All 3 versions
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