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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,...
Autores principales: | Fyfe, John C., Hemker, Shelby L., Frampton, Alycia, Raj, Karthik, Nagy, Peter L., Gibbon, Kristi J., Giger, Urs |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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Materias: | |
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 |
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