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978-3-662-55585-9Society for the Study of Inborn Errors of Metabolism (SSIEM) 2017词根词缀法 发表于 2025-3-27 16:07:57
JIMD Reports, Volume 34978-3-662-55586-6Series ISSN 2192-8304 Series E-ISSN 2192-8312女歌星 发表于 2025-3-27 20:32:33
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JIMD Reportshttp://image.papertrans.cn/j/image/500072.jpgcondescend 发表于 2025-3-28 03:26:25
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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.GLIDE 发表于 2025-3-28 11:55:28
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