دوره 9، شماره 2 - ( 2-1400 )                   جلد 9 شماره 2 صفحات 144-137 | برگشت به فهرست نسخه ها


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Medghalchi A, Hassanzadeh Rad A, Dalili S. The Ophthalmological Manifestations of Various Inborn Errors of Metabolism: A Narrative Review. J. Pediatr. Rev 2021; 9 (2) :137-144
URL: http://jpr.mazums.ac.ir/article-1-351-fa.html
The Ophthalmological Manifestations of Various Inborn Errors of Metabolism: A Narrative Review. Journal of Pediatrics Review. 1400; 9 (2) :137-144

URL: http://jpr.mazums.ac.ir/article-1-351-fa.html


چکیده:   (3167 مشاهده)
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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نوع مطالعه: Narrative Review |
دریافت: 1399/4/27 | پذیرش: 1399/8/1 | انتشار: 1400/1/12

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