Titlebook: JIMD Reports, Volume 34; Eva Morava,Matthias Baumgartner,Verena Peters Book 2017 Society for the Study of Inborn Errors of Metabolism (SSI

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978-3-662-55585-9Society for the Study of Inborn Errors of Metabolism (SSIEM) 2017

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JIMD Reports, Volume 34978-3-662-55586-6Series ISSN 2192-8304 Series E-ISSN 2192-8312

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JIMD Reportshttp://image.papertrans.cn/j/image/500072.jpg

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Novel , Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder,eterozygous for two novel mutations in the . gene, who is less affected than previously reported patients with a defect in the . gene. Our findings indicate that . defects may cause a disease spectrum similar as previously observed for other . gene defects.

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2192-8304 tabolic disorders.All contributions rigorously peer-reviewedJIMD 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 clinica