Associated Papers
Whole genome sequencing from dried blood spots for newborn screening of Menkes disease and 36 other actionable inherited neurometabolic disorders.
Kaler SG et al.
Molecular Genetics and Metabolism, 2026
Molecular Profile of Mucopolysaccharidosis Type I Patients in Brazil.
Cruz CRC et al.
Journal of Inherited Metabolic Disease, 2026
Pilot Study of Preconception Carrier Screening in Russia: Initial Findings and Challenges.
Glotov AS et al.
Genes, 2025
Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.
Zaslavsky K et al.
Investigative Ophthalmology & Visual Science, 2025
Neuroimaging and spinal manifestations of mucopolysaccharidosis type I: Insights from a pediatric case.
Boujida N et al.
Radiology Case Reports, 2025
Genetic variations in the IDUA gene in Tunisian MPS I families: Identification of a novel microdeletion disrupting substrate binding and structural insights.
Rebai M et al.
Molecular Genetics and Metabolism Reports, 2025
The Birth Prevalence of Mucopolysaccharidosis Types I, II, III, IVA, VI, and VII in the Republic of Kazakhstan Between 1984 and 2023.
Tulebayeva A et al.
Diagnostics (basel, Switzerland), 2025
Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report.
Agranier M et al.
Bmc Pregnancy and Childbirth, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Body Height of MPS I and II Patients after Hematopoietic Stem Cell Transplantation: The Impact of Dermatan Sulphate.
Lipiński P et al.
Diagnostics (basel, Switzerland), 2024
Whole paternal uniparental disomy of chromosome 4 with a novel homozygous IDUA splicing variant, c.159-9T>A, in a Chinese patient with mucopolysaccharidosis type I.
Yan L et al.
Molecular Genetics & Genomic Medicine, 2024
Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease.
Slavotinek AM et al.
Hgg Advances, 2024
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
Adenotonsillar pathology in mucopolysaccharidoses - lysosomal storage predominates in paracortical CD63+ cells.
Murgasova L et al.
Virchows Archiv : an International Journal of Pathology, 2024
Enzymatic testing for mucopolysaccharidosis type I in Kuwaiti newborns: a preliminary study toward newborn screening.
Alsharhan H et al.
Frontiers in Pediatrics, 2024
Mucopolysaccharidosis Type I: The Importance of Early Diagnosis for Adequate Treatment.
Diogo R et al.
Cureus, 2023
Hematopoietic cell transplantation for Mucopolysaccharidosis I in the presence of decreased cardiac function.
Pillai NR et al.
Molecular Genetics and Metabolism, 2023
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
Drug-induced eRF1 degradation promotes readthrough and reveals a new branch of ribosome quality control.
Gurzeler LA et al.
Cell Reports, 2023
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
Mucopolysaccharidosis Type I Presenting with Persistent Neonatal Respiratory Distress: A Case Report.
Asseri AA et al.
Diseases (basel, Switzerland), 2023
Mucopolysaccharidosis Type I in Mexico: Case-Based Review.
Cantú-Reyna C et al.
Children (basel, Switzerland), 2023
Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients.
Gardin A et al.
Bone Marrow Transplantation, 2023
Triamterene Functions as an Effective Nonsense Suppression Agent for MPS I-H (Hurler Syndrome).
Siddiqui A et al.
International Journal of Molecular Sciences, 2023
Synthesis and Evaluation of Novel Triaryl Derivatives with Readthrough-Inducing Activity.
Kawai S et al.
Chemical & Pharmaceutical Bulletin, 2023
Discovery of Novel Chromenopyridine Derivatives as Readthrough-Inducing Drugs.
Kawai S et al.
Chemical & Pharmaceutical Bulletin, 2023
Molecular docking analysis of a dermatan sulfate tetra-saccharide to human alpha-L-iduronidase.
Durán-Gutiérrez DP et al.
Bioinformation, 2023
Effects of gentamicin inducing readthrough premature stop Codons: A study of alpha-L-iduronidase nonsense variants in COS-7 Cells.
Ngiwsara L et al.
Biochemical and Biophysical Research Communications, 2022
MPSI Manifestations and Treatment Outcome: Skeletal Focus.
De Ponti G et al.
International Journal of Molecular Sciences, 2022
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
Early Neonatal Cardiac Phenotype in Hurler Syndrome: Case Report and Literature Review.
Pillai NR et al.
Genes, 2022
Newborn screening of mucopolysaccharidosis type I.
Burlina AB et al.
Critical Reviews in Clinical Laboratory Sciences, 2022
Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.
Straniero L et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
Alpha-L-iduronidase deficiency: A novel mutation resulting in severe early presentation of Mucopolysaccharidosis type I and literature review of the molecular basis.
Al Zaabi NN et al.
Clinical Case Reports, 2022
Nonsense Suppression Therapy: An Emerging Treatment for Hereditary Skin Diseases.
Yu J et al.
Acta Dermato-venereologica, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Evidence of Treatment Benefits in Patients with Mucopolysaccharidosis Type I-Hurler in Long-term Follow-up Using a New Magnetic Resonance Imaging Scoring System.
Pontesilli S et al.
The Journal of Pediatrics, 2022
Treatment of latent tuberculosis in a child with mucopolysaccharidosis type I receiving enzyme replacement therapy: A case report.
Vasilevska L et al.
Frontiers in Pediatrics, 2022
Hematopoietic Stem- and Progenitor-Cell Gene Therapy for Hurler Syndrome.
Gentner B et al.
The New England Journal of Medicine, 2021
Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population-genetic approach.
Mikó Á et al.
Human Mutation, 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Cochran M et al.
Molecular Genetics & Genomic Medicine, 2021
Long-term evolution of mucopolysaccharidosis type I in twins treated with enzyme replacement therapy plus hematopoietic stem cells transplantation.
Carbajal-Rodríguez LM et al.
Heliyon, 2021
In utero adenine base editing corrects multi-organ pathology in a lethal lysosomal storage disease.
Bose SK et al.
Nature Communications, 2021
High diagnosis rate for nonimmune hydrops fetalis with prenatal clinical exome from the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study.
Al-Kouatly HB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
The natural history of neurocognition in MPS disorders: A review.
Shapiro EG et al.
Molecular Genetics and Metabolism, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021