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ACADM Frameshift Variant in Cavalier King Charles Spaniels with Medium-Chain Acyl-CoA Dehydrogenase Deficiency

A 3-year-old, male neutered Cavalier King Charles Spaniel (CKCS) presented with complex focal seizures and prolonged lethargy. The aim of the study was to investigate the clinical signs, metabolic changes and underlying genetic defect. Blood and urine organic acid analysis revealed increased medium-...

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Detalles Bibliográficos
Autores principales:	Christen, Matthias, Bongers, Jos, Mathis, Déborah, Jagannathan, Vidhya, Quintana, Rodrigo Gutierrez, Leeb, Tosso
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9601649/ https://www.ncbi.nlm.nih.gov/pubmed/36292732 http://dx.doi.org/10.3390/genes13101847

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