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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
叢書名稱JIMD Reports
圖書封面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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Heart Failure Due to Severe Hypertrophic Cardiomyopathy Reversed by Low Calorie, High Protein Dietaon 3+ out of 4. On echocardiogram and electrocardiogram, the LVH had progressed as well. Initially, she was rejected for cardiac transplantation because of severe obesity. Therefore, a 900 cal, high protein diet providing 37% of total energy was prescribed during 4 months on which 10 kg weight loss
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Molybdenum Cofactor Deficiency: A New HPLC Method for Fast Quantification of ,-Sulfocysteine in Urisamples using high performance liquid chromatography (HPLC). The analysis is based on precolumn derivatization with .-phthaldialdehyde (OPA) and separation on a C18 reverse phase column coupled to UV detection. The method was extended to human serum analysis and no interference with endogenous amino
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