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Titlebook: JIMD Reports - Case and Research Reports, 2012/5; Johannes Zschocke,K Michael Gibson,Verena Peters Book 2013 SSIEM and Springer-Verlag Ber

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書(shū)目名稱JIMD Reports - Case and Research Reports, 2012/5
編輯Johannes Zschocke,K Michael Gibson,Verena Peters
視頻videohttp://file.papertrans.cn/501/500046/500046.mp4
概述Unique collection of case and research reports on rare metabolic disorders.Contains unusual or previously unrecorded features relevant to metabolic disorders.All contributions rigorously peer-reviewed
叢書(shū)名稱JIMD Reports
圖書(shū)封面Titlebook: JIMD Reports - Case and Research Reports, 2012/5;  Johannes Zschocke,K Michael Gibson,Verena Peters Book 2013 SSIEM and Springer-Verlag Ber
描述JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
出版日期Book 2013
關(guān)鍵詞endocrinology; inherited metabolic diseases; medical genetics; pediatrics; metabolic disease
版次1
doihttps://doi.org/10.1007/978-3-642-33433-7
isbn_softcover978-3-642-33432-0
isbn_ebook978-3-642-33433-7Series ISSN 2192-8304 Series E-ISSN 2192-8312
issn_series 2192-8304
copyrightSSIEM and Springer-Verlag Berlin Heidelberg 2013
The information of publication is updating

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A Pilot Study of the Effect of (E, E)-2, 4-Undecadienal on the Offensive Odour of Trimethylamine,ns of (E, E)-2, 4-undecadienal (0.1–100 ppm)...: All except one could detect the characteristic trimethylamine odour at varying concentrations (12.5–10,000 μmol/L) and reported the odour as offensive and fish like. There was a dose response effect of the ability of (E, E)-2, 4-undecadienal to deodor
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Unexplained Hypoglycemia During Continuous Nocturnal Gastric Drip-Feeding in a Patient with Glycogeeaches the small intestine due to rapid gastric emptying (Tack et al. 2009; Hejazi et al. 2010). We suppose that CNGDF induced a disturbance of gastric motility with a gastric accumulation of fluids at a certain time of the night followed by a rapid voiding of the stomach leading to DS.
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A Dysmorphometric Analysis to Investigate Facial Phenotypic Signatures as a Foundation for Non-inva an emerging methodology known as dysmorphometrics. This facilitated simultaneous identification of harmonic and discordant facial regions. A relative significant discordance (RSD) score quantified proportional facial discordance for a given individual, whilst a root-mean-squared-error (RMSE) score
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Recommendations on Reintroduction of Agalsidase Beta for Patients with Fabry Disease in Europe, Fol the concept that the 1.0 mg/kg EOW dose of agalsidase beta is more effective than agalsidase alfa at 0.2 mg/kg EOW, while others believe that at recommended dose, the preparations are equivalent. In light of these difficulties and the uncertainties with respect to supply of agalsidase beta, recomme
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