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Molecular analysis using targeted next generation DNA sequencing and clinical spectrum of Mexican patients with isovaleric acidemia

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Year: 2019
Type: article
Study design: Observational Study
Source: Clinica Chimica Acta
DOI: 10.1016/j.cca.2019.10.041
Authors: Isabel Ibarra-González, Cynthia Fernández-Lainez, Sara Guillén-López, Lizbeth López-Mejía, Leticia Belmont-Matínez, Tanya D. Sokolsky, Viren R. Amin, Rebecca L. Kitchener, Marcela Vela-Amieva, Edwin W. Naylor, Arindam Bhattacharjee
Institutions: Instituto Nacional de Pediatria, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México, Universidad Nacional Autónoma de México, Secretaria de Salud, Baebies (United States), Medical University of South Carolina
Language: English

Topic: Metabolism and Genetic Disorders
Subfield: Clinical Biochemistry
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: closed

Funders: Instituto Nacional de Pediatria, National Institute of Child Health and Human Development
OpenAlex ID: W2984803190
FWCI: 1.382
Cites: 26
Cited by: 16
Related to: 10
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