Titlebook: JIMD Reports, Volume 22; Johannes Zschocke,Matthias Baumgartner,Verena Pete Book 2015 SSIEM and Springer-Verlag Berlin Heidelberg 2015 Men

chlorosis

兵团

Girls with Seizures Due to the c.320A>G Variant in , Do Not Show Abnormal Glycosylation Pattern on agnosis despite an extensive genetic and metabolic evaluation. She initially manifested infantile spasms which responded to high-dose ACTH. Seizures seemed to resolve, but then at age 5, she developed complex partial seizures resistant to antiepileptics that responded to a ketogenic diet. Additional

alcohol-abuse

IST

Age at First Cardiac Symptoms in Fabry Disease: Association with a Chinese Hotspot Fabry Mutation () mutations from a disease registry, the Fabry Outcome Survey (FOS; sponsored by Shire). Most of our classical Fabry patients were symptomatic and were identified upon seeking medical advice at our clinics, whereas most of our IVS4 patients attended our clinics after newborn screening identified thi

影响深远

Factual

CUB

chronicle

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Joanne T. Marsden,Simon Guppy,Penelope Stein,Timothy M. Cox,Michael Badminton,Tricia Gardiner,Julian the rules of the PhysioNet/Computing in Cardiology Challenge 2011 (Moody, Comput Cardiol Challenge 38:273–276, 2011), whose aim is to develop an efficient algorithm able to run within a mobile phone that can provide useful feedback when acquiring a diagnostically useful 12-lead Electrocardiography

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