Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Rare Treatable Neurometabolic Disorder

por Korula, Sophy, Yoganathan, Sangeetha, Peter, Jeyanthi, Chandran, Mahalakshmi, Christudass, Chrithunesa S., Danda, Sumita
Publicado 2022

Clinico-Etiological Spectrum and Functional Outcomes of Children with Pre-Status Dystonicus and Status Dystonicus (SD): A Descriptive Study

por Joshi, Shridhar P., Thomas, Maya, Yoganathan, Sangeetha, Danda, Sumita, Chandran, Mahalakshmi, Jasper, Anitha
Publicado 2023

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

por Muthusamy, Karthik, Sudhakar, Sniya Valsa, Christudass, Christhunesa S, Chandran, Mahalakshmi, Thomas, Maya, Gibikote, Sridhar
Publicado 2019

Novel Imaging Finding and Novel Mutation in an Infant with Molybdenum Cofactor Deficiency, a Mimicker of Hypoxic-Ischaemic Encephalopathy

por YOGANATHAN, Sangeetha, SUDHAKAR, SniyaVALSA, THOMAS, Maya, KUMAR DUTTA, Atanu, DANDA, Sumita, CHANDRAN, Mahalakshmi
Publicado 2018

Phenotypic Pleiotropy in Arginase Deficiency: A Single Center Cohort

por Bharathi, Narmadham K., Thomas, Maya Mary, Yoganathan, Sangeetha, Chandran, Mahalakshmi, Aaron, Rekha, Danda, Sumita
Publicado 2022

Revisiting magnetic resonance imaging pattern of Krabbe disease – Lessons from an Indian cohort

por Muthusamy, Karthik, Sudhakar, Sniya Valsa, Thomas, Maya, Yoganathan, Sangeetha, Christudass, Christhunesa S., Chandran, Mahalakshmi, Panwala, Hirenkumar, Gibikote, Sridhar
Publicado 2019

Attenuated form of Glycine Encephalopathy: An Unusual Cause of Neurodevelopmental Disorder

por Yoganathan, Sangeetha, Srinivasaraghavan, Rangan, Chandran, Mahalakshmi, Kratz, Lisa, Koshy, Beena, Sudhakar, Sniya Valsa, Arunachal, Gautham, Thomas, Maya, Danda, Sumita
Publicado 2021

Hereditary Folate Malabsorption: A Rare Treatable Disorder with Hematological and Neurological Manifestations

por Kumar, Madhan, Yoganathan, Sangeetha, Todari, Siddarth, Suresh, Parvathy, Chandran, Mahalakshmi, Danda, Sumita, Mathew, Leni Grace, Koshy, Beena, Thomas, Maya
Publicado 2022

Fumaric Aciduria: A Rare Cause of Refractory Epilepsy

por Yoganathan, Sangeetha, Srinivasaraghavan, Rangan, Kumar, Madhan, Kratz, Lisa, Mular, Shraddha, Sudhakar, Sniya V., Malik, Prateek, Chandran, Mahalakshmi, Thomas, Maya, Danda, Sumita
Publicado 2022