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Titlebook: JIMD Reports - Volume 12; Johannes Zschocke,K Michael Gibson,Verena Peters Book 2014 SSIEM and Springer International Publishing Switzerla

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書(shū)目名稱JIMD Reports - Volume 12
編輯Johannes Zschocke,K Michael Gibson,Verena Peters
視頻videohttp://file.papertrans.cn/501/500050/500050.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 - Volume 12; Johannes Zschocke,K Michael Gibson,Verena Peters Book 2014 SSIEM and Springer International Publishing Switzerla
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(guān)鍵詞endocrinology; inherited metabolic diseases; medical genetics; pediatrics; metabolic disease
版次1
doihttps://doi.org/10.1007/978-3-319-03461-4
isbn_softcover978-3-319-03460-7
isbn_ebook978-3-319-03461-4Series ISSN 2192-8304 Series E-ISSN 2192-8312
issn_series 2192-8304
copyrightSSIEM and Springer International Publishing Switzerland 2014
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Novel Association of Early Onset Hepatocellular Carcinoma with Transaldolase Deficiency,n the three children homozygous for the p.Ser171Phe mutation. Our findings expand the phenotype of transaldolase deficiency to include early onset hepatocellular carcinoma in humans and demonstrate that, even within the same family, individuals with the same homozygous mutation demonstrate a wide range of phenotypes.
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978-3-319-03460-7SSIEM and Springer International Publishing Switzerland 2014
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Johannes Zschocke,K Michael Gibson,Verena PetersUnique 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
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JIMD Reportshttp://image.papertrans.cn/j/image/500050.jpg
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