Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI)

Lactate dehydrogenase (LDH) catalyzes the reversible conversion of L-lactate to pyruvate. LDH-A deficiency is an autosomal recessive disorder (glycogenosis type XI, OMIM#612933) caused by mutations in the LDHA gene. We present two young adult female patients presenting with intolerance to anaerobic...

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Detalles Bibliográficos
Autores principales: Serrano-Lorenzo, Pablo, Rabasa, María, Esteban, Jesús, Hidalgo Mayoral, Irene, Domínguez-González, Cristina, Blanco-Echevarría, Agustín, Garrido-Moraga, Rocío, Lucia, Alejandro, Blázquez, Alberto, Rubio, Juan C., Palma-Milla, Carmen, Arenas, Joaquín, Martín, Miguel A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9601687/
https://www.ncbi.nlm.nih.gov/pubmed/36292720
http://dx.doi.org/10.3390/genes13101835

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