Titlebook: JIMD Reports, Volume 27; Eva Morava,Matthias Baumgartner,Verena Peters Book 2016 SSIEM and Springer-Verlag Berlin Heidelberg 2016 inherite

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书目名称JIMD Reports, Volume 27影响因子(影响力)




书目名称JIMD Reports, Volume 27影响因子(影响力)学科排名




书目名称JIMD Reports, Volume 27网络公开度




书目名称JIMD Reports, Volume 27网络公开度学科排名




书目名称JIMD Reports, Volume 27被引频次




书目名称JIMD Reports, Volume 27被引频次学科排名




书目名称JIMD Reports, Volume 27年度引用




书目名称JIMD Reports, Volume 27年度引用学科排名




书目名称JIMD Reports, Volume 27读者反馈




书目名称JIMD Reports, Volume 27读者反馈学科排名

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, Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patlic carnitine and lactate are increased in both plasma and urine. Thus far, eight different disease-causing . mutations, of which six missense mutations and two splice site mutations, have been described in the literature. Here, we present the first patient with an intragenic deletion in . and review the patients described in literature.

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Further Delineation of the ALG9-CDG Phenotype,global atrophy with delayed myelination. Exome sequencing identified a novel homozygous mutation c.1075G>A, p.E359K of the ALG9 gene. The results of our analysis of these patients expand the knowledge of ALG9-CDG phenotype.

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JIMD Reports, Volume 27978-3-662-50409-3Series ISSN 2192-8304 Series E-ISSN 2192-8312

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Book 2016JIMD 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.

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