Cargando…
A novel missense variant in the L2HGDH gene in a cat with L‐2‐hydroxyglutaric aciduria and multicystic cerebral lesions
CASE DESCRIPTION: A 9‐month‐old intact male domestic shorthair cat was evaluated for increasing frequency of generalized tonic‐clonic seizures. CLINICAL FINDINGS: The cat was reported to have had episodes of circling between the seizures. Upon examination, the cat had bilateral inconsistent menace r...
Autores principales: | Christen, Matthias, Gonzalo‐Nadal, Veronica, Kaczmarska, Adriana, Dyrka, Magdalena, Guevar, Julien, Jagannathan, Vidhya, Leeb, Tosso, Gutierrez‐Quintana, Rodrigo |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10061192/ https://www.ncbi.nlm.nih.gov/pubmed/36880414 http://dx.doi.org/10.1111/jvim.16675 |
Ejemplares similares
-
L2HGDH Missense Variant in a Cat with L-2-Hydroxyglutaric Aciduria
por: Christen, Matthias, et al.
Publicado: (2021) -
D‐2‐hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants
por: Pop, Ana, et al.
Publicado: (2019) -
A major facilitator superfamily domain 8 frameshift variant in a cat with suspected neuronal ceroid lipofuscinosis
por: Guevar, Julien, et al.
Publicado: (2019) -
SCN9A
variant in a family of mixed breed dogs with congenital insensitivity to pain
por: Gutierrez‐Quintana, Rodrigo, et al.
Publicado: (2023) -
A L2HGDH initiator methionine codon mutation in a Yorkshire terrier with L-2-hydroxyglutaric aciduria
por: Farias, Fabiana HG, et al.
Publicado: (2012)