Associated Papers
Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from India.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2025
40898337 (PubMed )
Supplement: 13023_2025_4003_MOESM4_ESM.xlsx › Other_rare_groups
Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.
Sheth H et al.
Human Genomics, 2024
Fbxo2 mediates clearance of damaged lysosomes and modifies neurodegeneration in the Niemann-Pick C brain.
Liu EA et al.
Jci Insight, 2020
Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.
Seker Yilmaz B et al.
International Journal of Molecular Sciences, 2020
Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects.
England J et al.
Journal of Molecular and Cellular Cardiology, 2017
Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature.
Sheth J et al.
Bmc Medical Genetics, 2017
Characterization of a spontaneous novel mutation in the NPC2 gene in a cat affected by Niemann Pick type C disease.
Zampieri S et al.
Plos One, 2014
Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2.
Verot L et al.
Clinical Genetics, 2007
Structure and function of the NPC2 protein.
Vanier MT et al.
Biochimica Et Biophysica Acta, 2004
Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.
Park WD et al.
Human Mutation, 2003
Rare disease heralded by pulmonary manifestations: Avoiding pitfalls of an "asthma" label.
Bajaj S et al.
Journal of Postgraduate Medicine, 0
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