Jyotsna Verma
New Delhi, DL, India
Last Updated: 09/26/2026
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Found 25 publications
Long-Term Outcomes of Enzyme Replacement Therapy in Indian Patients with Gaucher Disease - A Multicentric Study.
Journal: Indian journal of pediatrics
Published: May 14, 2026
Organic Acidemias in India: Clinical and Molecular Spectrum.
Journal: Indian journal of pediatrics
Published: December 22, 2025
Genetic Etiology in Children with Progressive Neuroregression.
Journal: Indian journal of pediatrics
Published: September 12, 2025
Quality Issues in Medical Genetics Laboratories: "What a Clinician Needs to Know?"
Journal: Indian journal of pediatrics
Published: July 16, 2025
Adult-onset Leigh's syndrome: a rare cause of young-onset parkinsonism with dystonia.
Journal: QJM : monthly journal of the Association of Physicians
Published: October 31, 2023
Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes.
Journal: Journal of neuromuscular diseases
Published: December 05, 2021
Clinico-radiological and biochemical clues to early diagnosis of mucolipidosis type II.
Journal: Clinical dysmorphology
Published: September 25, 2021
Levels of Lyso GL-1 in Gaucher and Lyso GL-3 in Fabry patients from India: Diagnostic aids for these lysosomal storage disorders.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: January 23, 2021
Alpha-mannosidosis in a family: natural history with an uncommon retinal dystrophy.
Journal: Clinical dysmorphology
Published: December 08, 2020
Late onset Pompe Disease in India - Beyond the Caucasian phenotype.
Journal: Neuromuscular disorders : NMD
Published: October 17, 2020
Hypoxic Ischemic Encephalopathy or Metabolic Etiology-MRI as a Clue to Diagnosis.
Journal: Neurology India
Published: August 30, 2020
Last Updated: 09/26/2026