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Titlebook: JIMD Reports - Case and Research Reports, 2012/2; SSIEM Book 2012 SSIEM and Springer-Verlag Berlin Heidelberg 2012 endocrinology.inherited

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書(shū)目名稱JIMD Reports - Case and Research Reports, 2012/2
編輯SSIEM
視頻videohttp://file.papertrans.cn/501/500043/500043.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, 2012/2;  SSIEM Book 2012 SSIEM and Springer-Verlag Berlin Heidelberg 2012 endocrinology.inherited
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 2012
關(guān)鍵詞endocrinology; inherited metabolic diseases; medical genetics; pediatrics; metabolic disease
版次1
doihttps://doi.org/10.1007/978-3-642-28096-2
isbn_softcover978-3-642-28095-5
isbn_ebook978-3-642-28096-2Series ISSN 2192-8304 Series E-ISSN 2192-8312
issn_series 2192-8304
copyrightSSIEM and Springer-Verlag Berlin Heidelberg 2012
The information of publication is updating

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Galactokinase Deficiency in a Patient with Congenital Hyperinsulinism,ucose level was only 1.8 mmol/L. After discontinuation of oral feeding (stopping provision of dietary galactose), the bedside capillary blood glucose correlated with laboratory glucose concentrations. .: Biochemically the patient had CHI (blood glucose level 2.3 mmol/L with simultaneous serum insuli
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