Cherry red spot myoclonus syndrome[J]. Neuroophthalmology, 2019,45(1):65-67. DOI: 10.1080/01658107.2019.1676264 . 返回引文位置Google Scholar 百度学术 万方数据 [6] Ospina LH , Lyons CJ , McCormick AQ . "Cherry-red spot" or "perifoveal white patch" ?[J]. Can J Ophthalmol, 2005,40(...
Cushing's syndromeResistant hypertensionMultiple therapySandhoff disease (SD) is a lysosomal disease caused by a mutation of the HEXB gene associated with excessive accumulation of GM2 ganglioside (GM2) in lysosomes and neurological manifestations. Production of autoantibodies against the accumulated ...
High-dose enzyme replacement therapy in murine Hurler syndrome. Mol Genet Metab. 2014;111:116–22. CAS PubMed Google Scholar Cho SY, Lee J, Ko AR, Kwak MJ, Kim S, Sohn YB, et al. Effect of systemic high dose enzyme replacement therapy on the improvement of CNS defects in a mouse ...
SyndromeGangliosidesMicroscopy, ElectronChild, PreschoolA study of the ocular pathology in a case of Sandhoff's disease (GM 2 gangliosidosis-Type 2) revealed features closely similar to those found in Tay-Sachs disease (GM2 gangliosidosis -Type 1). The only difference lay in the nature of the...
EP02.06: A case of Meckel-Gruber syndrome in a couple with a history of Sandhoff diseaseSevere bleeding from placenta previa usually leads to immediate delivery. We report a case of a 23 weeks twin pregnancy who presented profuse bleeding while she was in the operating room for cervical ...
AAV-mediated MECP2 Gene Delivery in Mouse Models of Rett Syndromedoi:10.1016/S1525-0016(16)33359-7Woodley, Evan J.R.Osmon, KarlainaThompson, PatrickKarumuthil-Melethil, SubhaGray, StevenWalia, JagdeepMolecular Therapy
OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling. Hum Mutat 2000;16:157–165.Szabo C , Masiello A , Ryan JF & Brody LC ( 2000 ) The breast cancer information core: database design, structure, and scope . Hum ...