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Journal of Pediatrics Review، جلد ۸، شماره ۳، صفحات ۰-۰
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| عنوان فارسی |
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| چکیده فارسی مقاله |
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| کلیدواژههای فارسی مقاله |
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| عنوان انگلیسی |
Chronic Intermittent form of Isovaleric Acidemia with presentation of Staphylococcal Scalded Skin Syndrome: A case report and review of literature |
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| چکیده انگلیسی مقاله |
Introduction: Isovaleric acidemia is a type of autosomal recessive inborne errors of metabolism (IEM) that caused by mutation of Isovaleric-CoA dehydrogenase. Two phenotypes of IVA was reported: acute and chronic. Case presentation: The case was a 3- year- old boy with chronic intermittent presentation. Elevated 3-Hydroxybutyric acid and Isovaleric glycine in urinary acid profile was reported. We also performed a brief review about the presented case report; IVA on international databases for English language articles in children. Conclusion: There are some manners to screen IVA patients and the best one is GC-MS in urine analysis. The prognosis of the disease is dependent on the early interventions. |
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| کلیدواژههای انگلیسی مقاله |
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| نویسندگان مقاله |
| Daniel Zamanfar
Diabetes Research center, Department of Pediatric Endocrinology, Mazandaran University of Medical Sciences, Sari, Iran
| Elham Keyhanian
Department of Pediatric, Mazandaran University of Medical Sciences, Sari, Iran
| Mobin Ghazaiean
School of Medicine, Mazandaran University of Medical Sciences, Sari, Iran
| Somayeh Rostami Maskopaii
Pediatric Infectious Diseases Research Center, Mazandaran University of Medical Sciences, Sari Iran
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| نشانی اینترنتی |
http://jpr.mazums.ac.ir/browse.php?a_code=A-10-48-2&slc_lang=en&sid=1 |
| فایل مقاله |
اشکال در دسترسی به فایل - ./files/site1/rds_journals/268/article-268-2382696.pdf |
| کد مقاله (doi) |
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| زبان مقاله منتشر شده |
en |
| موضوعات مقاله منتشر شده |
Pediatric Endocrinology |
| نوع مقاله منتشر شده |
Case Report and Review of Literature |
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