Use of Exome Sequencing in Inborn Error of Metabolism: A Systematic Review
نویسندگان
چکیده
منابع مشابه
Selective screening of 650 high risk Iranian patients for detection of inborn error of metabolism
Objective: Although metabolic diseases individually are rare ,but overall have an incidence of 1/2000 and can cause devastating and irreversible effect if not diagnosed early and treated promptly. selective screening is an acceptable method for detection of these multi presentation diseases.Method: using panel neonatal screening for detection of metabolic diseases in 650 high risk Iranian patie...
متن کاملDrug treatment of inborn errors of metabolism: a systematic review
BACKGROUND The treatment of inborn errors of metabolism (IEM) has seen significant advances over the last decade. Many medicines have been developed and the survival rates of some patients with IEM have improved. Dosages of drugs used for the treatment of various IEM can be obtained from a range of sources but tend to vary among these sources. Moreover, the published dosages are not usually sup...
متن کاملEffect of Whole Exome Sequencing in Diagnosis of Inborn Errors of Metabolism and Neurogenetic Disorders
Objective Inborn errors of metabolism are complex disorders with huge variability in clinical manifestations. Decreasing cost of whole exome sequencing (WES) in recent years, made it affordable. Therefore, we witnessed an increase in using WES in diagnosis of genetic diseases, including inherited metabolic disorders. Methods A systematic search was done in well-known databases including Medli...
متن کاملWhole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates
BACKGROUND This study reports on the use of whole exome sequencing (WES) to diagnose children with inborn errors of metabolism and other disorders in United Arab Emirates. METHODS From January 2012 to December 2014, 85 patients (46 % females) were seen in the metabolic center at Tawam Hospital (Abu Dhabi) and WES testing was requested because definitive diagnoses were not reached by conventio...
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ژورنال
عنوان ژورنال: Asian Journal of Cell Biology
سال: 2015
ISSN: 1814-0068
DOI: 10.3923/ajcb.2015.35.42