Mahesh Kamate
Jawaharlal Nehru Medical College(IN)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Metabolism and Genetic Disorders, Hereditary Neurological Disorders, Infectious Encephalopathies and Encephalitis, Mitochondrial Function and Pathology
Most-Cited Works
- → Burden of Lysosomal Storage Disorders in India: Experience of 387 Affected Children from a Single Diagnostic Facility(2013)60 cited
- → Consensus guidelines on management of childhood convulsive status epilepticus(2014)45 cited
- → Acute leukoencephalopathy with restricted diffusion(2018)41 cited
- → Neuronal ceroid lipofuscinosis type-11 in an adolescent(2019)40 cited
- → Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients(2019)39 cited
- → GALNS mutations in Indian patients with mucopolysaccharidosis IVA(2014)37 cited
- → Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing(2016)36 cited
- → Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy(2019)33 cited
- → Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population(2010)30 cited
- → Profile of inborn errors of metabolism in a tertiary care centre PICU(2010)29 cited