Newborn Metabolic Screening: Reference Diagnostic Method Evaluation

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Samari S.; YOUNESI B.; Lashgary P.; Asiabanha Rezaee M.

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Paper Information

Journal: SAREM JOURNAL OF MEDICAL RESEARCH (SAREM JOURNAL OF REPRODUCTIVE MEDICINE) Year:2017 | Volume:2 | Issue:3 Page(s): 179-185

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Information Journal Paper

Title

Newborn Metabolic Screening: Reference Diagnostic Method Evaluation

Author(s)

Samari S. | YOUNESI B. | Lashgary P. | Asiabanha Rezaee M. | Issue Writer Certificate

Keywords

Neonatal Screening

Metabolic Diseases

Tandem Mass Spectrometry

Abstract

Introduction Neonatal metabolic disorders are a group of genetic biochemical diseases that cause diseases in the metabolic pathway due to the lack of enzyme function and enzymatic activity. More than a thousand metabolic disorders have been identified, but these diseases have a low prevalence. These diseases should be diagnosed in the pre-emergence period. The clinical symptoms of these diseases are complex and different. Neonatal Screening is conducted for the early and rapid diagnosis of a large number of congenital and metabolic genetic diseases with the aim of identifying and managing the affected baby to prevent complications, death, and disability associated with a hereditary metabolic disorder. In this study, the related articles were searched both in Persian and English, using PubMed, Elsevier, and Google scholar databases. Finally, 38 articles were downloaded, translated, and analyzed in depth, and the history of neonatal metabolic disorder, its clinical in children and adults, as well as recent advances in the field of early diagnosis of these diseases were examined. Conclusion Today, the use of tandem mass spectrometric methods for the analysis of metabolic disorders has increased our ability to diagnose metabolic mediators and to identify and diagnose a large number of metabolic disorders with one sample and a single analytical run. A tandem mass spectrometric method can detect more than 50 metabolic disorders in just 2 to 3 minutes with a droplet of blood clot on paper.

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APA: Copy

Samari, S., YOUNESI, B., Lashgary, P., & Asiabanha Rezaee, M.. (2017). Newborn Metabolic Screening: Reference Diagnostic Method Evaluation. SAREM JOURNAL OF MEDICAL RESEARCH (SAREM JOURNAL OF REPRODUCTIVE MEDICINE), 2(3 ), 179-185. SID. https://sid.ir/paper/377913/en

Vancouver: Copy

Samari S., YOUNESI B., Lashgary P., Asiabanha Rezaee M.. Newborn Metabolic Screening: Reference Diagnostic Method Evaluation. SAREM JOURNAL OF MEDICAL RESEARCH (SAREM JOURNAL OF REPRODUCTIVE MEDICINE)[Internet]. 2017;2(3 ):179-185. Available from: https://sid.ir/paper/377913/en

IEEE: Copy

S. Samari, B. YOUNESI, P. Lashgary, and M. Asiabanha Rezaee, “Newborn Metabolic Screening: Reference Diagnostic Method Evaluation,” SAREM JOURNAL OF MEDICAL RESEARCH (SAREM JOURNAL OF REPRODUCTIVE MEDICINE), vol. 2, no. 3 , pp. 179–185, 2017, [Online]. Available: https://sid.ir/paper/377913/en

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