Mamta N. Muranjan
Mumbai, MH, India
Last Updated: 09/26/2026
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Found 67 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
Impact of Enzyme Replacement Therapy on Patients with Late Onset Pompe Disease - Real World Data from a Developing Country.
Journal: Indian journal of pediatrics
Published: March 25, 2026
Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.
Journal: Orphanet journal of rare diseases
Published: October 31, 2025
Economic burden of Duchenne muscular dystrophy from a societal perspective in Mumbai, India.
Journal: Journal of postgraduate medicine
Published: September 07, 2025
Genotype-Phenotype Correlation Through Breakpoint Characterization of a Genomically Balanced Complex Chromosomal Rearrangement Using Long Read Sequencing.
Journal: American journal of medical genetics. Part A
Published: May 22, 2025
Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from India.
Journal: Orphanet journal of rare diseases
Published: November 09, 2024
Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder.
Journal: Clinical genetics
Published: July 30, 2024
Red Cell Pyruvate Kinase Deficiency With Hypertriglyceridemia: A Case Report.
Journal: Cureus
Published: July 13, 2024
Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia.
Journal: European journal of human genetics : EJHG
Published: July 01, 2024
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Journal: Orphanet journal of rare diseases
Published: April 18, 2024
Last Updated: 09/26/2026