Inherited selective cobalamin malabsorption in Komondor dogs associated with a CUBN splice site variant

BACKGROUND: Three Komondor dogs in a small family and 3 sporadic cases exhibited a constellation of signs that included juvenile-onset of failure-to-thrive, inappetence, vomiting and/or diarrhea, and weakness. In each we documented dyshematopoiesis, increased anion gap, methylmalonic acidemia/-uria,...

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Detalles Bibliográficos
Autores principales: Fyfe, John C., Hemker, Shelby L., Frampton, Alycia, Raj, Karthik, Nagy, Peter L., Gibbon, Kristi J., Giger, Urs
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309081/
https://www.ncbi.nlm.nih.gov/pubmed/30591068
http://dx.doi.org/10.1186/s12917-018-1752-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309081/
https://www.ncbi.nlm.nih.gov/pubmed/30591068
http://dx.doi.org/10.1186/s12917-018-1752-1

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