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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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)學科排名




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




書目名稱JIMD Reports, Volume 22網(wǎng)絡公開度學科排名




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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頌揚國家

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