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Isolated methylmalonic acidemia in Mexico: Genotypic spectrum, report of two novel MMUT variants and a possible synergistic heterozygosity effect by Cynthia Fernández-Lainez, Marcela Vela-Amieva, Miriam Reyna-Fabián, Liliana Fernández-Hernández, Sara Guillén-López, Lizbeth López-Mejía, Miguel Ángel Alcántara-Ortigoza, Ariadna González-del Angel, Rosa Itzel Carrillo-Nieto, Enrique Ortega-Valdez, Mauricio Rojas-Maruri, Cecilia Ridaura-Sanz
Published 2024-12-01
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