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Titlebook: JIMD Reports - Case and Research Reports, Volume 13; Johannes Zschocke,K. Michael Gibson,Verena Peters Book 2014 SSIEM and Springer-Verlag

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書目名稱JIMD Reports - Case and Research Reports, Volume 13
編輯Johannes Zschocke,K. Michael Gibson,Verena Peters
視頻videohttp://file.papertrans.cn/501/500047/500047.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, Volume 13;  Johannes Zschocke,K. Michael Gibson,Verena Peters Book 2014 SSIEM and Springer-Verlag
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 2014
關鍵詞endocrinology; inherited metabolic diseases; medical genetics; pediatrics; metabolic disease
版次1
doihttps://doi.org/10.1007/978-3-642-54149-0
isbn_softcover978-3-642-54148-3
isbn_ebook978-3-642-54149-0Series ISSN 2192-8304 Series E-ISSN 2192-8312
issn_series 2192-8304
copyrightSSIEM and Springer-Verlag Berlin Heidelberg 2014
The information of publication is updating

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Biotin-Responsive Basal Ganglia Disease: A Treatable Differential Diagnosis of Leigh Syndrome,formation-field-based morphometry of brain magnetic resonance images constitutes a novel quantitative tool, which might be very useful to monitor disease course and therapeutic effects in neurometabolic disorders.
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Pregnancy and Lactation Outcomes in a Turkish Patient with Lysinuric Protein Intolerance,fed for 6 months. His growth and development was normal. Mild proteinuria started at the fourth month of the delivery. Our case report showed the importance of follow-up of these patients in terms of placental pathologies during pregnancy and for other complications during lactation period.
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2192-8304 tabolic disorders.All contributions rigorously peer-reviewedJIMD 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
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978-3-642-54148-3SSIEM and Springer-Verlag Berlin Heidelberg 2014
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JIMD Reports - Case and Research Reports, Volume 13978-3-642-54149-0Series ISSN 2192-8304 Series E-ISSN 2192-8312
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