Prevalence and genetic variability of inborn errors of metabolism in Bahrain
المؤلفون المشاركون
al-Jishi, Imtithal
al-Sahlawi, Zahrah
Madan, Amal
المصدر
العدد
المجلد 41، العدد 2 (30 يونيو/حزيران 2019)، ص ص. 84-89، 6ص.
الناشر
تاريخ النشر
2019-06-30
دولة النشر
البحرين
عدد الصفحات
6
التخصصات الرئيسية
الموضوعات
الملخص EN
Objective : to evaluate the prevalence and the pattern of inborn errors of metabolism (iems), mutation spectrum and outcome.
design : a retrospective analysis.
setting : salmaniya medical complex, Bahrain.
methods : a seventeen-year retrospective study of patients diagnosed with iems was performed.
the following were documented: iems categories, age, sex, origin, and consanguinity.
in addition, molecular genetic result and outcome were documented.
result: one hundred eighty-eight patients with IEM were included in the study.
one hundred seventy-seven (94.1%) were consanguineous.
ninety-three (49.5%) patients were identified to have small molecules disorders, while 95 (50.5%) were large molecules disorders.
mutation analysis was done on 124 (66%) patients, and novel mutations were detected in 72 (38.3%).
the overall death rate was 41.5%.
conclusion: the high rate of iems in Bahrain warrants the need for implementing a national neonatal screening program to evaluate the exact burden of these disorders to reduce mortality and morbidity by early management.
the detection of molecular genetic mutations in our population will help a prevention program through preimplantation genetic diagnosis; in addition, the presence of a large number of novel mutations will invariably help identifying the genetic variability in this region.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
al-Jishi, Imtithal& al-Sahlawi, Zahrah& Madan, Amal. 2019. Prevalence and genetic variability of inborn errors of metabolism in Bahrain. Bahrain Medical Bulletin،Vol. 41, no. 2, pp.84-89.
https://search.emarefa.net/detail/BIM-889016
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
al-Jishi, Imtithal…[et al.]. Prevalence and genetic variability of inborn errors of metabolism in Bahrain. Bahrain Medical Bulletin Vol. 41, no. 2 (Jun. 2019), pp.84-89.
https://search.emarefa.net/detail/BIM-889016
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
al-Jishi, Imtithal& al-Sahlawi, Zahrah& Madan, Amal. Prevalence and genetic variability of inborn errors of metabolism in Bahrain. Bahrain Medical Bulletin. 2019. Vol. 41, no. 2, pp.84-89.
https://search.emarefa.net/detail/BIM-889016
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references : p. 89
رقم السجل
BIM-889016
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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