Lista de obras -

A Case of Juvenile Alexander Disease Presenting as Microcephaly

scientific article published on 10 January 2019

A Novel GCH1 Mutation in An Indian Child with GTP Cyclohydrolase Deficiency

artículo científico publicado en 2019

A case of Canavan disease with microcephaly.

artículo científico publicado en 2016

Acquired Immunodeficiency Syndrome With Subacute Sclerosing Panencephalitis ⬇️

artículo científico publicado el 1 de noviembre de 2012

Acute flaccid myelitis-Clustering of polio-like illness in the tertiary care centre in Southern India

artículo científico publicado en 2019

Aicardi-Goutieres Syndrome Presenting with Congenital Glaucoma

scientific article published on 05 February 2020

Clinical profile, predisposing factors, and associated co-morbidities of children with cerebral palsy in South India

artículo científico publicado en 2015

Clinical, Demographic, and Electroencephalographic Profile of Hot-Water Epilepsy in Children

artículo científico publicado en 2021

Commentary

Corticotrophin-ACTH in Comparison to Prednisolone in West Syndrome - A Randomized Study

scientific article published on 19 September 2018

Etiological Evaluation of Global Developmental Delay

artículo científico publicado en 2019

Expanding Phenotype of Hypomyelination and Congenital Cataract (HCC) with a Novel Pathogenic Variant

artículo científico publicado en 2020

Fucosidosis with Pathogenic Variant in FUCA1 Gene

artículo científico publicado en 2020

Horizontal Gaze Palsy with Progressive Kyphoscoliosis

artículo científico publicado en 2020

Infantile Alexander Disease Presenting with Hydrocephalus and Epileptic Spasms

scientific article published on 06 March 2020

Infantile Tremor Syndrome (ITS) Presenting as Diabetic Ketoacidosis (DKA)

scientific article published on 28 August 2019

Intermittent Ataxia with Early Onset Absence Epilepsy in Glucose Transporter Type 1 Deficiency Syndrome

Kufor-Rakeb Syndrome/ Parkinson Disease Type 9

scientific article published on 14 January 2020

Mitochondrial Membrane Protein Associated Neurodegeneration (MPAN) with a Novel C19orf12 Mutation in the First Decade of Life

artículo científico publicado en 2019

Multiple exostoses presenting with high cervical myelopathy in the first decade of life

artículo científico publicado en 2014

Ohtahara syndrome associated with hemimegalencephaly and intracranial lipoma

artículo científico publicado en 2015

Paralytic rabies following cat scratch and intra-dermal anti-rabies vaccination

artículo científico publicado en 2014

Recurrent Bilateral Lower Motor Neuron Type of Facial Palsy with Hearing Impairment: Hyperphosphatemic Familial Tumoral Calcinosis

scientific article published in 2022

Recurrent Stroke Like Episodes Secondary to Ornithine Transcarbamylase Deficiency

scientific article published on 01 February 2020

Report of Two Siblings with Andermann Syndrome

artículo científico publicado en 2020

Sotos Syndrome Presenting without Gigantism

artículo científico publicado en 2020

Tay-Sachs Disease Presenting as Refractory Epilepsy with Autistic Regression Secondary to a Novel Mutation in HEXA Gene

artículo científico publicado en 2018

Treatable Cause of Pancytopenia, Recurrent Infections and Refractory Epilepsy: Secondary to Hereditary Folate Malabsorption (HFM) Due to Novel Pathogenic Variant

artículo científico publicado en 2020

Waardenburg Syndrome Type I

scientific article published on 27 January 2020

Lista de obras de

A Case of Juvenile Alexander Disease Presenting as Microcephaly

A Novel GCH1 Mutation in An Indian Child with GTP Cyclohydrolase Deficiency

A case of Canavan disease with microcephaly.

Acquired Immunodeficiency Syndrome With Subacute Sclerosing Panencephalitis ⬇️

Acute flaccid myelitis-Clustering of polio-like illness in the tertiary care centre in Southern India

Aicardi-Goutieres Syndrome Presenting with Congenital Glaucoma

Clinical profile, predisposing factors, and associated co-morbidities of children with cerebral palsy in South India

Clinical, Demographic, and Electroencephalographic Profile of Hot-Water Epilepsy in Children

Commentary

Corticotrophin-ACTH in Comparison to Prednisolone in West Syndrome - A Randomized Study

Etiological Evaluation of Global Developmental Delay

Expanding Phenotype of Hypomyelination and Congenital Cataract (HCC) with a Novel Pathogenic Variant

Fucosidosis with Pathogenic Variant in FUCA1 Gene

Horizontal Gaze Palsy with Progressive Kyphoscoliosis

Infantile Alexander Disease Presenting with Hydrocephalus and Epileptic Spasms

Infantile Tremor Syndrome (ITS) Presenting as Diabetic Ketoacidosis (DKA)

Intermittent Ataxia with Early Onset Absence Epilepsy in Glucose Transporter Type 1 Deficiency Syndrome

Kufor-Rakeb Syndrome/ Parkinson Disease Type 9

Mitochondrial Membrane Protein Associated Neurodegeneration (MPAN) with a Novel C19orf12 Mutation in the First Decade of Life

Multiple exostoses presenting with high cervical myelopathy in the first decade of life

Ohtahara syndrome associated with hemimegalencephaly and intracranial lipoma

Paralytic rabies following cat scratch and intra-dermal anti-rabies vaccination

Recurrent Bilateral Lower Motor Neuron Type of Facial Palsy with Hearing Impairment: Hyperphosphatemic Familial Tumoral Calcinosis

Recurrent Stroke Like Episodes Secondary to Ornithine Transcarbamylase Deficiency

Report of Two Siblings with Andermann Syndrome

Sotos Syndrome Presenting without Gigantism

Tay-Sachs Disease Presenting as Refractory Epilepsy with Autistic Regression Secondary to a Novel Mutation in HEXA Gene

Treatable Cause of Pancytopenia, Recurrent Infections and Refractory Epilepsy: Secondary to Hereditary Folate Malabsorption (HFM) Due to Novel Pathogenic Variant

Waardenburg Syndrome Type I