Associated Papers
Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2026
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Maternal mixed UPD3 and a homozygous PLXNA1 c.2497G>C variant in a fetus with severe anomalies.
Ye Y et al.
Frontiers in Medicine, 2025
Long-range PCR amplification-based targeted enrichment & next generation sequencing: A cost-effective testing strategy for lysosomal storage disorders.
Vanaja MC et al.
The Indian Journal of Medical Research, 2023
Gene Editing Corrects In Vitro a G > A GLB1 Transition from a GM1 Gangliosidosis Patient.
Leclerc D et al.
The Crispr Journal, 2023
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
Tebani A et al.
Journal of Medical Genetics, 2022
Clinical and Laboratory Profile of Gangliosidosis from Southern Part of India.
Gowda VK et al.
Journal of Pediatric Genetics, 2022
Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North India.
Moirangthem A et al.
American Journal of Medical Genetics. Part A, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Mongolian spots in GM1 gangliosidosis: a pictorial report.
Mishra S et al.
Clinical Dysmorphology, 2021
The Clinical and Molecular Spectrum of GM1 Gangliosidosis.
Arash-Kaps L et al.
The Journal of Pediatrics, 2019
Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.
Ou L et al.
Molecular Genetics and Metabolism Reports, 2019
Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study.
Nestrasil I et al.
Molecular Genetics and Metabolism, 2018
Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay.
Myers KA et al.
American Journal of Medical Genetics. Part A, 2018
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing.
Ghosh A et al.
Archives of Disease in Childhood, 2017
MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis.
Regier DS et al.
American Journal of Medical Genetics. Part A, 2016
Inherited metabolic disorders: prenatal diagnosis of lysosomal storage disorders.
Verma J et al.
Prenatal Diagnosis, 2015
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.
Caciotti A et al.
Biochimica Et Biophysica Acta, 2011
GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.
Hofer D et al.
Human Mutation, 2009
Intrauterine growth retardation and placental vacuolization as presenting features in a case of GM1 gangliosidosis.
Brunetti-Pierri N et al.
Journal of Inherited Metabolic Disease, 2007
GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling.
Caciotti A et al.
Human Mutation, 2007
beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.
Morrone A et al.
Human Mutation, 2000
Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels.
Dũng VC et al.
Molecular Genetics and Metabolism, 0