Associated Papers
Natural history, clinical symptoms, and cognitive development of Japanese patients with mucopolysaccharidosis III.
Seo JH et al.
Molecular Genetics and Metabolism Reports, 2025
Mucopolysaccharidoses-What Clinicians Need to Know: A Clinical, Biochemical, and Molecular Overview.
Lipiński P et al.
Biomolecules, 2025
Cellular and molecular changes in mucopolysaccharidosis-plus syndrome caused by a homozygous c.599G > C (p.Arg200Pro) variant of the VPS33A gene.
Cyske Z et al.
Journal of Applied Genetics, 2025
VarMeter: a prediction method for the impact of glycogene variants.
Ohno S et al.
Journal of Human Genetics, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
Collagen fibril formation at the plasma membrane occurs independently from collagen secretion.
Pickard A et al.
Biorxiv : the Preprint Server for Biology, 2024
Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients.
Almenabawy N et al.
American Journal of Medical Genetics. Part A, 2023
Focal lesions following intracerebral gene therapy for mucopolysaccharidosis IIIA.
Bugiani M et al.
Annals of Clinical and Translational Neurology, 2023
Decreased Levels of Chaperones in Mucopolysaccharidoses and Their Elevation as a Putative Auxiliary Therapeutic Approach.
Żabińska M et al.
Pharmaceutics, 2023
Activities of (Poly)phenolic Antioxidants and Other Natural Autophagy Modulators in the Treatment of Sanfilippo Disease: Remarkable Efficacy of Resveratrol in Cellular and Animal Models.
Rintz E et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2023
Chemically modified recombinant human sulfamidase (SOBI003) in mucopolysaccharidosis IIIA patients: Results from an open, non-controlled, multicenter study.
Harmatz P et al.
Molecular Genetics and Metabolism, 2022
Natural History and Molecular Characteristics of Korean Patients with Mucopolysaccharidosis Type III.
Kim MS et al.
Journal of Personalized Medicine, 2022
A case report of Sanfilippo syndrome - the long way to diagnosis.
Lorenz D et al.
Bmc Neurology, 2022
Impaired ion homeostasis as a possible associate factor in mucopolysaccharidosis pathogenesis: transcriptomic, cellular and animal studies.
Gaffke L et al.
Metabolic Brain Disease, 2022
An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA.
Wijburg FA et al.
Molecular Genetics and Metabolism, 2022
A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases.
La Cognata V et al.
Genes, 2021
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.
Sallevelt SCEH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
An Engineered sgsh Mutant Zebrafish Recapitulates Molecular and Behavioural Pathobiology of Sanfilippo Syndrome A/MPS IIIA.
Douek AM et al.
International Journal of Molecular Sciences, 2021
The natural history of neurocognition in MPS disorders: A review.
Shapiro EG et al.
Molecular Genetics and Metabolism, 2021
Gene Expression-Related Changes in Morphologies of Organelles and Cellular Component Organization in Mucopolysaccharidoses.
Gaffke L et al.
International Journal of Molecular Sciences, 2021
Expression of genes involved in apoptosis is dysregulated in mucopolysaccharidoses as revealed by pilot transcriptomic analyses.
Brokowska J et al.
Cell Biology International, 2021
Epidemiology of Mucopolysaccharidoses Update.
Çelik B et al.
Diagnostics (basel, Switzerland), 2021
Novel therapies for mucopolysaccharidosis type III.
Seker Yilmaz B et al.
Journal of Inherited Metabolic Disease, 2021
Mucopolysaccharidosis III: Molecular basis and treatment.
Spahiu L et al.
Pediatric Endocrinology, Diabetes, and Metabolism, 2021
Hematopoietic stem cell transplantation in mucopolysaccharidosis type IIIA: A case description and comparison with a genotype-matched control group.
Köhn AF et al.
Molecular Genetics and Metabolism Reports, 2020
Transcriptomic Changes Related to Cellular Processes with Particular Emphasis on Cell Activation in Lysosomal Storage Diseases from the Group of Mucopolysaccharidoses.
Rintz E et al.
International Journal of Molecular Sciences, 2020
Underestimated Aspect of Mucopolysaccharidosis Pathogenesis: Global Changes in Cellular Processes Revealed by Transcriptomic Studies.
Gaffke L et al.
International Journal of Molecular Sciences, 2020
Genetic Base of Behavioral Disorders in Mucopolysaccharidoses: Transcriptomic Studies.
Pierzynowska K et al.
International Journal of Molecular Sciences, 2020
Bioinformatics classification of mutations in patients with Mucopolysaccharidosis IIIA.
Tanwar H et al.
Metabolic Brain Disease, 2019
The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype.
Nijmeijer SCM et al.
Orphanet Journal of Rare Diseases, 2019
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.
Zanetti A et al.
European Journal of Pediatrics, 2019
Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know.
Filocamo M et al.
Italian Journal of Pediatrics, 2018
Generation of two induced pluripotent stem cells lines from Mucopolysaccharydosis IIIA patient: IMEDEAi004-A and IMEDEAi004-B.
Vallejo S et al.
Stem Cell Research, 2018
Prediction of phenotypic severity in mucopolysaccharidosis type IIIA.
Knottnerus SJG et al.
Annals of Neurology, 2017
A novel conditional Sgsh knockout mouse model recapitulates phenotypic and neuropathic deficits of Sanfilippo syndrome.
Lau AA et al.
Journal of Inherited Metabolic Disease, 2017
Epidemiology of mucopolysaccharidoses.
Khan SA et al.
Molecular Genetics and Metabolism, 2017
Characterization of a Case of Pigmentary Retinopathy in Sanfilippo Syndrome Type IIIA Associated with Compound Heterozygous Mutations in the SGSH Gene.
Wilkin J et al.
Ophthalmic Genetics, 2016
A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA.
Shapiro EG et al.
The Journal of Pediatrics, 2016
Sanfilippo syndrome: Overall review.
Andrade F et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2015
A multiparametric computational algorithm for comprehensive assessment of genetic mutations in mucopolysaccharidosis type IIIA (Sanfilippo syndrome).
Ugrinov KG et al.
Plos One, 2015
Intracerebral administration of adeno-associated viral vector serotype rh.10 carrying human SGSH and SUMF1 cDNAs in children with mucopolysaccharidosis type IIIA disease: results of a phase I/II trial.
Tardieu M et al.
Human Gene Therapy, 2014
[Genetic aspects of mucopolysaccharidoses].
Lacombe D et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2014
Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA.
Sidhu NS et al.
Acta Crystallographica. Section D, Biological Crystallography, 2014
Sanfilippo syndrome, glucose-6-phosphate dehydrogenase deficiency and sickle cell/β+ thalassemia in a child: the burden of consanguinity.
Mohamed S
American Journal of Medical Genetics. Part A, 2014
Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.
Pollard LM et al.
Journal of Inherited Metabolic Disease, 2013
Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome.
Muschol N et al.
American Journal of Medical Genetics. Part A, 2011