A milder form of molybdenum cofactor deficiency type A presenting as Leigh's syndrome-like phenotype highlighting the secondary mitochondrial dysfunction: a case report

BACKGROUND: Molybdenum cofactor deficiency (MoCD) (OMIM# 252150) is an autosomal-recessive disorder caused by mutations in four genes involved in the molybdenum cofactor (MOCO) biosynthesis pathway. OBJECTIVES: We report a milder phenotype in a patient with MOCS1 gene mutation who presented with a L...

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Detalles Bibliográficos
Autores principales: Almudhry, Montaha, Prasad, Asuri N., Rupar, C. Anthony, Tay, Keng Yeow, Ratko, Suzanne, Jenkins, Mary E., Prasad, Chitra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10542394/
https://www.ncbi.nlm.nih.gov/pubmed/37789894
http://dx.doi.org/10.3389/fneur.2023.1214137

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10542394/
https://www.ncbi.nlm.nih.gov/pubmed/37789894
http://dx.doi.org/10.3389/fneur.2023.1214137

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