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Last Updated: 10/31/2025

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Found 2180 publications

Defining lung pathogenesis in a murine model of mucopolysaccharidosis Type I by proteomic analysis.

Defining lung pathogenesis in a murine model of mucopolysaccharidosis Type I by proteomic analysis.

Journal: Molecular genetics and metabolism
Published: August 01, 2025

Neuroimaging and spinal manifestations of mucopolysaccharidosis type I: Insights from a pediatric case.

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.

Parental psychosocial outcomes after a positive newborn screen for a lysosomal storage disorder.

Journal: Molecular genetics and metabolism
Published: June 16, 2025

Cervicothoracic Kyphosis and Spinal Cord Compression in Hurler Syndrome.

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.

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

Anaesthesia Considerations for an Adult with Hurler Syndrome.

Anaesthesia Considerations for an Adult with Hurler Syndrome.

Journal: Irish medical journal
Published: May 12, 2025

Safety assessment of laronidase: real-world adverse event analysis based on the FDA adverse event reporting system (FAERS).

Safety assessment of laronidase: real-world adverse event analysis based on the FDA adverse event reporting system (FAERS).

Journal: Frontiers in pharmacology
Published: May 06, 2025

Imaging hallmarks of mucopolysaccharidosis in a young Ethiopian boy: A case report.

Imaging hallmarks of mucopolysaccharidosis in a young Ethiopian boy: A case report.

Journal: Radiology case reports
Published: April 29, 2025

Mucopolysaccharidosis Type I and α-Mannosidosis-Phenotypically Comparable but Genetically Different: Diagnostic and Therapeutic Considerations.

Mucopolysaccharidosis Type I and α-Mannosidosis-Phenotypically Comparable but Genetically Different: Diagnostic and Therapeutic Considerations.

Journal: Biomedicines
Published: April 07, 2025

Efficacy and safety of a biosimilar laronidase versus the reference laronidase in patients with mucopolysaccharidosis type I.

Efficacy and safety of a biosimilar laronidase versus the reference laronidase in patients with mucopolysaccharidosis type I.

Journal: Scientific reports
Published: April 06, 2025

Giant cytoplasmic inclusions (Alder-Reilly bodies) in Hurler syndrome (mucopolysaccharidosis type 1H).

Giant cytoplasmic inclusions (Alder-Reilly bodies) in Hurler syndrome (mucopolysaccharidosis type 1H).

Journal: Blood
Published: April 03, 2025

Non-neurological, non skeletal outcomes after hematopoietic stem and progenitor cell-gene therapy -OTL-203- for Hurler syndrome.

Non-neurological, non skeletal outcomes after hematopoietic stem and progenitor cell-gene therapy -OTL-203- for Hurler syndrome.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: April 02, 2025
Showing 1-12 of 2,180

Last Updated: 10/31/2025