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Journal of Pediatrics Review، جلد ۹، شماره ۲، صفحات ۱۳۷-۱۴۴
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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 |
The Ophthalmological Manifestations of Various Inborn Errors of Metabolism: A Narrative Review |
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| چکیده انگلیسی مقاله |
Context: Inborn errors of metabolism or Inherited Metabolic Disorders (IMD) are a class of genetic disorders that occur because of single-gene defects. Evidence Acquisition: In this narrative review article, the authors searched Institute for Scientific Information (ISI), Web of Science, PubMed, and Google Scholar for the relevant evidence. Results: The ocular manifestations of IMDs can be distinguished in different diseases such as Albinism, Cystinosis, Homocystinuria, and Sulfite oxidize deficiency, Mannosidosis, Fucosidosis, Sialidosis, etc. Conclusions: Due to the direct toxic mechanisms of abnormal metabolites on eyes and regarding the effect of eye monitoring on the follow-up, management, and treatment, a detailed ophthalmological assessment is essential. |
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| کلیدواژه‌های انگلیسی مقاله |
Inherited Metabolic Disorder (IMD), Ophthalmology, Eye |
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| نویسندگان مقاله |
| Abdolreza Medghalchi
Eye Research Center, Guilan University of Medical Sciences, Rasht, Iran.
| Afagh Hassanzadeh Rad
Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran.
| Setila Dalili
Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran.
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| نشانی اینترنتی |
http://jpr.mazums.ac.ir/browse.php?a_code=A-10-584-1&slc_lang=en&sid=1 |
| فایل مقاله |
فایلی برای مقاله ذخیره نشده است |
| کد مقاله (doi) |
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| زبان مقاله منتشر شده |
en |
| موضوعات مقاله منتشر شده |
Pediatric Endocrinology |
| نوع مقاله منتشر شده |
Narrative Review |
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