Personalized medicine approach confirms a milder case of ABAT deficiency

ABAT deficiency (OMIM 613163) is a rare inborn error of metabolism caused by recessive variants in the gene 4-aminobutyric acid transaminase (ABAT), which is responsible for both the catalysis of GABA and maintenance of nucleoside pools in the mitochondria. To date, only a few patients have been rep...

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Detalles Bibliográficos
Autores principales: Besse, A., Petersen, A. K., Hunter, J. V., Appadurai, V., Lalani, S. R., Bonnen, P. E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5131463/
https://www.ncbi.nlm.nih.gov/pubmed/27903293
http://dx.doi.org/10.1186/s13041-016-0273-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5131463/
https://www.ncbi.nlm.nih.gov/pubmed/27903293
http://dx.doi.org/10.1186/s13041-016-0273-8

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