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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书目名称JIMD Reports, Volume 22影响因子(影响力)




书目名称JIMD Reports, Volume 22影响因子(影响力)学科排名




书目名称JIMD Reports, Volume 22网络公开度




书目名称JIMD Reports, Volume 22网络公开度学科排名




书目名称JIMD Reports, Volume 22被引频次




书目名称JIMD Reports, Volume 22被引频次学科排名




书目名称JIMD Reports, Volume 22年度引用




书目名称JIMD Reports, Volume 22年度引用学科排名




书目名称JIMD Reports, Volume 22读者反馈




书目名称JIMD Reports, Volume 22读者反馈学科排名

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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