Management and long-term evolution of a patient with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency

BACKGROUND: 3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency is a rare inborn error of metabolism characterized by recurrent metabolic crises caused by fasting, intercurrent illness and excessive physical exercise. Non ketotic hypoglycemia is normally the cause of primary symptoms bu...

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Detalles Bibliográficos
Autores principales: Muñoz-Bonet, Juan Ignacio, Ortega-Sánchez, María del Carmen, León Guijarro, José Luis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5347826/
https://www.ncbi.nlm.nih.gov/pubmed/28257639
http://dx.doi.org/10.1186/s13052-017-0333-4

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