Associated Papers
Lysosomal storage disorders in nonimmune hydrops fetalis diagnosed by exome sequencing.
Makhamreh MM et al.
Orphanet Journal of Rare Diseases, 2025
Generation of two iPSC lines from patient with Mucopolysaccharidosis IV B type and autosomal recessive non-syndromic hearing loss 12.
Panchuk IO et al.
Stem Cell Research, 2023
Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape.
Bychkov I et al.
Npj Genomic Medicine, 2022
A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies.
Dufke A et al.
Prenatal Diagnosis, 2022
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
Tebani A et al.
Journal of Medical Genetics, 2022
Are GMI gangliosidosis and Morquio type B two different disorders or part of one phenotypic spectrum?
Kingma SDK et al.
Jimd Reports, 2021
A computational approach to analyse the amino acid variants of GLB1 protein causing GM1 Gangliosidosis.
Priyanka K et al.
Metabolic Brain Disease, 2021
GM1 Gangliosidosis: Mechanisms and Management.
Rha AK et al.
The Application of Clinical Genetics, 2021
Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.
Ramensky VE et al.
Frontiers in Genetics, 2021
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Setup and Validation of a Targeted Next-Generation Sequencing Approach for the Diagnosis of Lysosomal Storage Disorders.
Zanetti A et al.
The Journal of Molecular Diagnostics : Jmd, 2020
Morquio-B disease: Clinical and genetic characteristics of a distinct GLB1-related dysostosis multiplex.
Abumansour IS et al.
Jimd Reports, 2020
The Clinical and Molecular Spectrum of GM1 Gangliosidosis.
Arash-Kaps L et al.
The Journal of Pediatrics, 2019
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content.
Tonin R et al.
Scientific Reports, 2019
Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.
Ou L et al.
Molecular Genetics and Metabolism Reports, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
The 6th Rare Disease South Eastern Europe (See) Meeting, Skopje, Macedonia (November 11th, 2017).
Gucev Z et al.
Prilozi (makedonska Akademija Na Naukite I Umetnostite. Oddelenie Za Medicinski Nauki), 2017
[Structural basis for β-galactosidase associated with lysosomal disease].
Shimizu T
Yakugaku Zasshi : Journal of the Pharmaceutical Society of Japan, 2013
DLHex-DGJ, a novel derivative of 1-deoxygalactonojirimycin with pharmacological chaperone activity in human G(M1)-gangliosidosis fibroblasts.
Fantur K et al.
Molecular Genetics and Metabolism, 2010
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
Novel beta-galactosidase gene mutation p.W273R in a woman with mucopolysaccharidosis type IVB (Morquio B) and lack of response to in vitro chaperone treatment of her skin fibroblasts.
Gucev ZS et al.
American Journal of Medical Genetics. Part A, 2008
Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B.
Paschke E et al.
Human Genetics, 2001