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Clinicoradiological Spectrum of L-2-Hydroxy Glutaric Aciduria: Typical and Atypical Findings in an Indian Cohort

CONTEXT: Neurometabolic disorders form an important group of potentially treatable diseases. It is important to recognize the clinical phenotype and characteristic imaging patterns to make an early diagnosis and initiate appropriate treatment. L-2-hydroxy glutaric aciduria (L2HGA) is a rare organic...

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Detalles Bibliográficos
Autores principales: Muthusamy, Karthik, Sudhakar, Sniya Valsa, Christudass, Christhunesa S, Chandran, Mahalakshmi, Thomas, Maya, Gibikote, Sridhar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Scientific Scholar 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6702895/
https://www.ncbi.nlm.nih.gov/pubmed/31448154
http://dx.doi.org/10.25259/JCIS-9-3