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Last Updated: 01/07/2026
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Found 2191 publications
Fatal EBV-Associated Posttransplant Lymphoproliferative Disease and Secondary Hemophagocytic Lymphohistiocytosis in a Pediatric Patient With Hurler Syndrome Following Hematopoietic Cell Transplantation: A Case Report and Review of the Literature.
Journal: Pediatric blood & cancer
Published: October 06, 2025
Reclassifying IDUA c.250G>A (p.Gly84Ser): Evidence for a Possible Pseudodeficiency Allele.
Journal: International journal of neonatal screening
Published: September 05, 2025
Clinical outcomes of exclusive enzyme therapy (laronidase) in a cohort of patients with mucopolysaccharidosis type I.
Journal: Orphanet journal of rare diseases
Published: August 20, 2025
Defining lung pathogenesis in a murine model of mucopolysaccharidosis Type I by proteomic analysis.
Journal: Molecular genetics and metabolism
Published: August 01, 2025
Bilateral Foveal Cysts in Mucopolysaccharidosis Type I (Hurler Syndrome): Response to Acetazolamide With Insights From Multimodal Retinal Imaging and Electrophysiology.
Journal: Case reports in ophthalmological medicine
Published: July 18, 2025
Mucopolysaccharidoses: A biochemical study under limited resources.
Journal: Molecular genetics and metabolism reports
Published: July 14, 2025
Neuroimaging and spinal manifestations of mucopolysaccharidosis type I: Insights from a pediatric case.
Journal: Radiology case reports
Published: June 20, 2025
Parental psychosocial outcomes after a positive newborn screen for a lysosomal storage disorder.
Journal: Molecular genetics and metabolism
Published: June 16, 2025
Long-term safety outcomes and patient preferences for home-based intravenous enzyme replacement therapy (ERT) in Pompe disease and Mucopolysaccharidosis Type I (MPS-I): final results of two-year observation.
Journal: Orphanet journal of rare diseases
Published: June 07, 2025
Cervicothoracic Kyphosis and Spinal Cord Compression in Hurler Syndrome.
Journal: Journal of pediatric orthopedics
Published: June 04, 2025
Analysis of the Effect of Demographic Variables on Lysosomal Enzyme Activities in the Missouri Newborn Screening Program.
Journal: International journal of neonatal screening
Published: May 29, 2025
Comparative evaluation of hepatic-targeted knock-in strategies using viral and nonviral vector combinations in mouse inherited disease models.
Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: May 29, 2025
Last Updated: 01/07/2026