Burden of Lysosomal Storage Disorders in India: Experience of 387 Affected Children from a Single Diagnostic Facility

Jayesh Sheth, Mehul Mistri, Frenny Sheth, +10

JIMD Reports

Consensus guidelines on management of childhood convulsive status epilepticus

Devendra Mishra, Suvasini Sharma, Naveen Sankhyan, +4

Indian Pediatrics

Child PsychologyNeuropsychologyPediatric NeurosurgeryPediatricsEducation +2

Neuronal ceroid lipofuscinosis type-11 in an adolescent

Mahesh Kamate, Mayank Detroja, Virupaxi Hattiholi

Brain and Development

Neuro-oncologyPathologyNeurologyChoroid PlexusNeuropathology +1

Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients

Aparna Ganapathy, Avshesh Mishra, Megha Rani Soni, +39

Journal of Neurology

NeurogenomicsNeurological DisorderGeneticsGenetic EpidemiologyDisease Gene Identification +14

Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing

Kishore R. Kumar, Gautam Wali, Mahesh Kamate, +9

Neurogenetics

Pain DisordersMendelian DisorderWhole Genome SequencingGenetic DisorderGenetics +8

<i>GALNS</i> mutations in Indian patients with mucopolysaccharidosis IVA

Abdul Mueed Bidchol, Ashwin Dalal, Hitesh Shah, +24

American Journal of Medical Genetics Part A

Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy

Dhanya Lakshmi Narayanan, Divya Matta, Neerja Gupta, +9

Journal of Human Genetics

AllergyAutoimmune DiseaseHematologyPathologyMedicine +2

Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population

Pallavi Shukla, Suman Vasisht, Ranjana Srivastava, +13

Journal of the Neurological Sciences

Autoimmune DiseaseStructural AnalysisPathologyDermatologyScleroderma +4

Profile of inborn errors of metabolism in a tertiary care centre PICU

Mahesh Kamate, Vivek Chetal, Vijaylaxmi Kulgod, +2

The Indian Journal of Pediatrics

NutritionInborn ErrorsBody CompositionMetabolic DisorderMetabolic Disease +10

Glutaric aciduria type I: A treatable neurometabolic disorder

Mahesh Kamate, Vishwanath Patil, Vivek Chetal, +2

Annals of Indian Academy of Neurology