Metabolic screening and metabolomics analysis in the Intellectual Developmental Disorders Mexico Study
Objective. Inborn errors of metabolism (IEM) are genetic conditions that are sometimes associated with intellectual developmental disorders (IDD). The aim of this study is to contribute to the metabolic characterization of IDD of unknown etiology in Mexico. Materials and methods. Metabolic screenin...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Instituto Nacional de Salud Pública
2017-07-01
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| Series: | Salud Pública de México |
| Subjects: | |
| Online Access: | http://www.saludpublica.mx/index.php/spm/article/view/8668 |
| Summary: | Objective. Inborn errors of metabolism (IEM) are genetic conditions that are sometimes associated with intellectual developmental disorders (IDD). The aim of this study is to contribute to the metabolic characterization of IDD of unknown etiology in Mexico. Materials and methods. Metabolic screening using tandem mass spectrometry and fluorometry will be performed to rule out IEM. In addition,target metabolomic analysis will be done to characterize the metabolomic profile of patients with IDD. Conclusion. Identification of new metabolomic profiles associated withIDD of unknown etiology and comorbidities will contribute to the development of novel diagnostic and therapeutic schemes for the prevention and treatment of IDD in Mexico. |
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| ISSN: | 0036-3634 1606-7916 |