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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書目名稱JIMD Reports, Volume 27影響因子(影響力)




書目名稱JIMD Reports, Volume 27影響因子(影響力)學(xué)科排名




書目名稱JIMD Reports, Volume 27網(wǎng)絡(luò)公開度




書目名稱JIMD Reports, Volume 27網(wǎng)絡(luò)公開度學(xué)科排名




書目名稱JIMD Reports, Volume 27被引頻次




書目名稱JIMD Reports, Volume 27被引頻次學(xué)科排名




書目名稱JIMD Reports, Volume 27年度引用




書目名稱JIMD Reports, Volume 27年度引用學(xué)科排名




書目名稱JIMD Reports, Volume 27讀者反饋




書目名稱JIMD Reports, Volume 27讀者反饋學(xué)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.

stratum-corneum

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.

growth-factor

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

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JIMD Reportshttp://image.papertrans.cn/j/image/500065.jpg

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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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