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L2HGDH Missense Variant in a Cat with L-2-Hydroxyglutaric Aciduria

A 7-month-old, spayed female, domestic longhair cat with L-2-hydroxyglutaric aciduria (L-2-HGA) was investigated. The aim of this study was to investigate the clinical signs, metabolic changes and underlying genetic defect. The owner of the cat reported a 4-month history of multiple paroxysmal seizu...

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Detalles Bibliográficos
Autores principales:	Christen, Matthias, Janzen, Nils, Fraser, Anne, Sewell, Adrian C., Jagannathan, Vidhya, Guevar, Julien, Leeb, Tosso, Sanchez-Masian, Daniel
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8147296/ https://www.ncbi.nlm.nih.gov/pubmed/34062805 http://dx.doi.org/10.3390/genes12050682

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