Neerja Gupta-Agarwal
New Delhi, DL 110029, India
Last Updated: 09/26/2026
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Found 13 publications
The Great Masquerade: Varying Manifestations of Lysinuric Protein Intolerance.
Journal: Indian journal of pediatrics
Published: February 15, 2024
Faces of Fibrodysplasia Ossificans Progressiva: Lessons from a Clinical Masquerader.
Journal: Indian journal of pediatrics
Published: January 27, 2023
Not Everything That Shines on CT Scan is TORCH!
Journal: Indian journal of pediatrics
Published: January 22, 2023
Clinical and Molecular Spectrum of Patients with Methylmalonic Acidemia.
Journal: Indian journal of pediatrics
Published: November 02, 2022
Combined Methylmalonic Aciduria and Homocystinuria Presenting as Pulmonary Hypertension.
Journal: Indian journal of pediatrics
Published: April 09, 2021
A patient with POLA1 splice variant expands the yet evolving phenotype of Van Esch O'Driscoll syndrome.
Journal: European journal of medical genetics
Published: February 07, 2021
Lipoprotein Lipase Deficiency: Diet is the Key!
Journal: Indian journal of pediatrics
Published: December 21, 2020
Duchenne Muscular Dystrophy- Where Genetic Testing is Inevitable and Vital!
Journal: Indian journal of pediatrics
Published: April 24, 2020
Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease.
Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease.
Journal: The Journal of pediatrics
Published: February 13, 2019
Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis.
Journal: Journal of human genetics
Published: June 21, 2017
Establishing National Neonatal Perinatal Database and birth defects registry network - need of the hour!
Journal: Indian pediatrics
Published: September 18, 2014
Last Updated: 09/26/2026