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Inborn errors of metabolism in children with unexplained developmental delay in Misan, Iraq
المؤلفون المشاركون
al-Jawadi, Husayn Fadil
al-Tamimi, Hasan A.
Ali, Isra A.
المصدر
العدد
المجلد 34، العدد 4 (31 يوليو/تموز 2019)، ص ص. 297-301، 5ص.
الناشر
المجلس العماني للاختصاصات الطبية
تاريخ النشر
2019-07-31
دولة النشر
سلطنة عمان
عدد الصفحات
5
التخصصات الرئيسية
الموضوعات
الملخص EN
Objectives: We sought to determine the prevalence of inborn errors of metabolism (IEM) in children with unexplained developmental delay and their types.
Methods: We conducted a cross-sectional study in Misan, Iraq, over a period of one year.
A total of 112 infants with unexplained developmental delay were included in the study, and the required information was taken from their parents by direct interview.
Tandem mass spectrometry (MS/MS) was done in collaboration with MedLabs’ Referral Laboratory in Amman, Jordan.
Results: Twenty (17.9%) cases had abnormal MS/MS.
Disorders of amino acid metabolism represented the majority of IEM (10 cases) in which phenylketonuria and maple syrup urine disease were the most common (found in five cases each).
Organic and fatty acid metabolisms were found in five and two cases, respectively.
Most cases of IEM had a positive family history and consanguinity, however, family history was the only significant factor (p < 0.001).
Conclusions: A high rate of IEM was detected in children with unexplained developmental delay in Misan.
A high clinical suspicion with positive family history and consanguinity supported by the MS/MS results played an essential role in the diagnosis.
However, implementation of newborn screening is essential for early diagnosis and to determine appropriate therapy in newborns with IEM in Iraq generally and in Misan in particular
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
al-Tamimi, Hasan A.& al-Jawadi, Husayn Fadil& Ali, Isra A.. 2019. Inborn errors of metabolism in children with unexplained developmental delay in Misan, Iraq. Oman Medical Journal،Vol. 34, no. 4, pp.297-301.
https://search.emarefa.net/detail/BIM-890588
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
al-Tamimi, Hasan A.…[et al.]. Inborn errors of metabolism in children with unexplained developmental delay in Misan, Iraq. Oman Medical Journal Vol. 34, no. 4 (Jul. 2019), pp.297-301.
https://search.emarefa.net/detail/BIM-890588
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
al-Tamimi, Hasan A.& al-Jawadi, Husayn Fadil& Ali, Isra A.. Inborn errors of metabolism in children with unexplained developmental delay in Misan, Iraq. Oman Medical Journal. 2019. Vol. 34, no. 4, pp.297-301.
https://search.emarefa.net/detail/BIM-890588
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references : p. 300-301
رقم السجل
BIM-890588
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر
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