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Last Updated: 03/06/2025
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Found 2157 publications
Alterations in Hurler-Scheie Syndrome Revealed by Mass Spectrometry-Based Proteomics and Phosphoproteomics Analysis.
Journal: Omics : a journal of integrative biology
Published: October 29, 2024
Digital microfluidic platform for dried blood spot newborn screening of lysosomal storage diseases in Campania region (Italy): Findings from the first year pilot project.
Journal: Molecular genetics and metabolism
Published: September 10, 2024
Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I.
Journal: American journal of medical genetics. Part A
Published: September 03, 2024
Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report.
Journal: BMC pregnancy and childbirth
Published: September 02, 2024
A rare case report of echocardiographic manifestations of cardiac involvement in mucopolysaccharidosis type I after hematopoietic stem cell transplantation.
Journal: Asian journal of surgery
Published: August 27, 2024
Human iPSC-derived neural stem cells engraft and improve pathophysiology of MPS I mice.
Journal: Molecular therapy. Methods & clinical development
Published: August 23, 2024
Use of Marsupialization as a Definitive Treatment for Large-sized Dentigerous Cysts in a Patient with Mucopolysaccharidosis Type I.
Journal: Prague medical report
Published: August 22, 2024
Challenges in Diagnosing and Managing Hurler Syndrome: A Case Report.
Journal: Cureus
Published: August 16, 2024
Body Height of MPS I and II Patients after Hematopoietic Stem Cell Transplantation: The Impact of Dermatan Sulphate.
Journal: Diagnostics (Basel, Switzerland)
Published: July 30, 2024
Newborn Screening for Hurler Syndrome Facilitates Early Transplant and Good Outcomes.
Journal: Pediatric neurology
Published: July 27, 2024
High precision newborn screening for mucopolysaccharidosis type I by enzymatic activity followed by endogenous, non-reducing end glycosaminoglycan analysis.
Journal: Molecular genetics and metabolism
Published: July 11, 2024
Intrathecal or intravenous AAV9-IDUA/RGX-111 at minimal effective dose prevents cardiac, skeletal and neurologic manifestations of murine MPS I.
Journal: Molecular therapy. Methods & clinical development
Published: June 24, 2024
Last Updated: 03/06/2025