Associated Papers
Uncovering the Molecular Signatures of Rare Genetic Diseases in the Punjabi Population.
Tabassum I et al.
International Journal of Molecular Sciences, 2025
41516090 (PubMed )
Supplement: ijms-27-00206-s001.zip › Supplementary_Table_S2__Tabassum_et_al.xlsx › Table_S2A
A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I.
Zhang T et al.
Molecular Genetics and Metabolism, 2022
Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE-diagnosis study (IMPRESsion).
Ghaffari SR et al.
Human Mutation, 2022
Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology.
Voskoboeva EY et al.
Frontiers in Molecular Biosciences, 2021
The effect of haemopoietic stem cell transplantation on the ocular phenotype in mucopolysaccharidosis type I (Hurler).
Javed A et al.
Acta Ophthalmologica, 2018
IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.
Ghosh A et al.
Human Mutation, 2017
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