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Titlebook: JIMD Reports, Volume 22; Johannes Zschocke,Matthias Baumgartner,Verena Pete Book 2015 SSIEM and Springer-Verlag Berlin Heidelberg 2015 Men

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發(fā)表于 2025-3-21 19:25:12 | 只看該作者 |倒序?yàn)g覽 |閱讀模式
書目名稱JIMD Reports, Volume 22
編輯Johannes Zschocke,Matthias Baumgartner,Verena Pete
視頻videohttp://file.papertrans.cn/501/500060/500060.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, Volume 22;  Johannes Zschocke,Matthias Baumgartner,Verena Pete Book 2015 SSIEM and Springer-Verlag Berlin Heidelberg 2015 Men
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 2015
關(guān)鍵詞Mendelian disorder; endocrinology; inherited metabolic diseases; medical genetics; pediatrics; metabolic
版次1
doihttps://doi.org/10.1007/978-3-662-47453-2
isbn_softcover978-3-662-47452-5
isbn_ebook978-3-662-47453-2Series ISSN 2192-8304 Series E-ISSN 2192-8312
issn_series 2192-8304
copyrightSSIEM and Springer-Verlag Berlin Heidelberg 2015
The information of publication is updating

書目名稱JIMD Reports, Volume 22影響因子(影響力)




書目名稱JIMD Reports, Volume 22影響因子(影響力)學(xué)科排名




書目名稱JIMD Reports, Volume 22網(wǎng)絡(luò)公開度




書目名稱JIMD Reports, Volume 22網(wǎng)絡(luò)公開度學(xué)科排名




書目名稱JIMD Reports, Volume 22被引頻次




書目名稱JIMD Reports, Volume 22被引頻次學(xué)科排名




書目名稱JIMD Reports, Volume 22年度引用




書目名稱JIMD Reports, Volume 22年度引用學(xué)科排名




書目名稱JIMD Reports, Volume 22讀者反饋




書目名稱JIMD Reports, Volume 22讀者反饋學(xué)科排名




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Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IM expectancy. Clinical care in any one centre is constrained by small patient numbers; and furthermore diagnostic and treatment strategies vary between metabolic centres and countries, resulting in significant inequalities and disparity in patient outcome.../.: The overall objective of the EU-funded
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Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerechromosome 2p13-3, the methylmalonyl-CoA epimerase gene (.) and the sepiapterin reductase gene (.)...: The patient was born from consanguineous parents. He has presented a moderate but constant methylmalonic acid (MMA) excretion in urine associated with a mental retardation. The first homozygous mut
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Bladder and Bowel Dysfunction Is Common in Both Men and Women with Mutation of the ABCD1 Gene for Xy (AMN), which is characterised by involvement of the spinal cord and peripheral nerves. The aim of this study was to evaluate bladder and bowel symptoms in men with AMN and female X-ALD carriers...: In this cross-sectional study, patients with confirmed mutation of the ABCD1 gene attending a tertia
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