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the ophthalmological manifestations of various inborn errors of metabolism: a narrative review
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نویسنده
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medghalchi abdolreza ,hassanzadeh rad afagh ,dalili setila
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منبع
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journal of pediatrics review - 2021 - دوره : 9 - شماره : 2 - صفحه:137 -144
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چکیده
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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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کلیدواژه
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inherited metabolic disorder (imd) ,ophthalmology ,eye
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آدرس
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guilan university of medical sciences, eye research center, iran, guilan university of medical sciences, pediatric diseases research center, iran, guilan university of medical sciences, pediatric diseases research center, iran
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پست الکترونیکی
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setiladalili1346@yahoo.com
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Authors
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