کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
1998483 | 1065810 | 2013 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Metabolic stroke in a late-onset form of isolated sulfite oxidase deficiency
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
زیست شیمی
پیش نمایش صفحه اول مقاله
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چکیده انگلیسی
We report the first case of late-onset isolated sulfite oxidase deficiency (ISOD) presenting with a stroke-like episode. Clinical, biochemical and neuroradiological features at diagnosis and during follow-up after dietary treatment intervention are described. Furthermore, pathogenic mechanisms possibly leading to stroke in ISOD are discussed.
► We present a case of isolated sulfite oxidase deficiency presenting with stroke.
► We describe favorable clinical and biochemical follow-ups after dietary intervention.
► Possible pathogenic mechanisms leading to stroke are described.
► Homocysteine revealed an important biomarker for early diagnosis.
► We underline the importance of enhanced knowledge of a rare but treatable disease.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular Genetics and Metabolism - Volume 108, Issue 4, April 2013, Pages 263–266
Journal: Molecular Genetics and Metabolism - Volume 108, Issue 4, April 2013, Pages 263–266
نویسندگان
Monica Del Rizzo, Alessandro P. Burlina, Jörn Oliver Sass, Frauke Beermann, Chiara Zanco, Chiara Cazzorla, Andrea Bordugo, Laura Giordano, Renzo Manara, Alberto B. Burlina,