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
Uncovering the Molecular Signatures of Rare Genetic Diseases in the Punjabi Population.
Tabassum I et al.
International Journal of Molecular Sciences, 2025
Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.
Zaslavsky K et al.
Investigative Ophthalmology & Visual Science, 2025
Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.
Kaplanis J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Functional assessment of IDUA variants of uncertain significance identified by newborn screening.
Yu SH et al.
Npj Genomic Medicine, 2024
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
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
Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing.
Gul R et al.
Frontiers in Genetics, 2023
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.
Best S et al.
Journal of Medical Genetics, 2022
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
Which Is the Best In Silico Program for the Missense Variations in IDUA Gene? A Comparison of 33 Programs Plus a Conservation Score and Evaluation of 586 Missense Variants.
Borges P et al.
Frontiers in Molecular Biosciences, 2021
IDUA gene mutations in mucopolysaccharidosis type-1 patients from two Pakistani inbred families.
Gul R et al.
Congenital Anomalies, 2020
Mucopolysaccharidosis Type I.
Kubaski F et al.
Diagnostics (basel, Switzerland), 2020
Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1.
Zahoor MY et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019
Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.
Clarke LA et al.
Clinical Genetics, 2019
"Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assay.
Jahic A et al.
Molecular Genetics & Genomic Medicine, 2019
Biochemical, machine learning and molecular approaches for the differential diagnosis of Mucopolysaccharidoses.
Kadali S et al.
Molecular and Cellular Biochemistry, 2019
IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.
Ghosh A et al.
Human Mutation, 2017
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Phenotype prediction for mucopolysaccharidosis type I by in silico analysis.
Ou L et al.
Orphanet Journal of Rare Diseases, 2017
Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II.
Uttarilli A et al.
Clinical Genetics, 2016
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
Reid ES et al.
Brain : a Journal of Neurology, 2016
Outcomes of Long-Term Treatment with Laronidase in Patients with Mucopolysaccharidosis Type I.
Laraway S et al.
The Journal of Pediatrics, 2016
Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation.
Kunin-Batson AS et al.
Jimd Reports, 2016
Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships.
Al-Sannaa NA et al.
Orphanet Journal of Rare Diseases, 2015
[Genetic aspects of mucopolysaccharidoses].
Lacombe D et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2014
Structural and clinical implications of amino acid substitutions in α-L-iduronidase: insight into the basis of mucopolysaccharidosis type I.
Saito S et al.
Molecular Genetics and Metabolism, 2014
Genotypic and bioinformatic evaluation of the alpha-l-iduronidase gene and protein in patients with mucopolysaccharidosis type I from Colombia, Ecuador and Peru.
Pineda T et al.
Molecular Genetics and Metabolism Reports, 2014
Insights into mucopolysaccharidosis I from the structure and action of α-L-iduronidase.
Bie H et al.
Nature Chemical Biology, 2013
Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.
Oussoren E et al.
Molecular Genetics and Metabolism, 2013
Does early use of enzyme replacement therapy alter the natural history of mucopolysaccharidosis I? Experience in three siblings.
Laraway S et al.
Molecular Genetics and Metabolism, 2013
Laronidase for the treatment of mucopolysaccharidosis type I.
Clarke LA
Expert Review of Endocrinology & Metabolism, 2011
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.
Bertola F et al.
Human Mutation, 2011
Structural study on mutant alpha-L-iduronidases: insight into mucopolysaccharidosis type I.
Sugawara K et al.
Journal of Human Genetics, 2008
Enzyme replacement therapy in 12 patients with MPS I-H/S with homozygous p.Leu490Pro mutation.
Arora RS et al.
Journal of Inherited Metabolic Disease, 2007
Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I.
Vijay S et al.
Acta Paediatrica (oslo, Norway : 1992), 2005
A homology model for human alpha-l-iduronidase: insights into human disease.
Rempel BP et al.
Molecular Genetics and Metabolism, 2005
Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations.
Beesley CE et al.
Human Genetics, 2001
Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studies.
Bunge S et al.
Biochimica Et Biophysica Acta, 1998
Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S).
Tieu PT et al.
Human Mutation, 1995
Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene.
Bunge S et al.
Human Mutation, 1995
Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human alpha-L-iduronidase (IDUA) gene.
Li P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0