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Growth and Overall Health of Patients with SLC13A5 Citrate Transporter Disorder

We were interested in elucidating the non-neurologic health of patients with autosomal recessive SLC13A5 Citrate Transporter (NaCT) Disorder. Multiple variants have been reported that cause a loss of transporter activity, resulting in significant neurologic impairment, including seizures, as well as...

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Detalles Bibliográficos
Autores principales: Brown, Tanya L., Nye, Kimberly L., Porter, Brenda E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8625967/
https://www.ncbi.nlm.nih.gov/pubmed/34822404
http://dx.doi.org/10.3390/metabo11110746

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