Multiple Sulfatase Deficiency Latest Advances

Find the Latest Research About Multiple Sulfatase Deficiency

Last Updated: 06/30/2026

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Found 569 publications

Intravenous Delivery of a Gene Therapy Vector that Expresses an Antitransferrin Receptor 1 Nanobody-I2S Fusion Protein Rescued Central Nervous System Lysosomal Burden in Mucopolysaccharidosis II Mice.

Intravenous Delivery of a Gene Therapy Vector that Expresses an Antitransferrin Receptor 1 Nanobody-I2S Fusion Protein Rescued Central Nervous System Lysosomal Burden in Mucopolysaccharidosis II Mice.

Journal: Human gene therapy
Published: December 29, 2025

Allogeneic Hematopoietic Cell Transplantation for Morquio A Syndrome: An International Retrospective Study.

Allogeneic Hematopoietic Cell Transplantation for Morquio A Syndrome: An International Retrospective Study.

Journal: Transplantation and cellular therapy
Published: November 30, 2025

Longitudinal MRI-based changes in intracranial volume and skull thickness observed in both metachromatic leukodystrophy and multiple sclerosis.

Longitudinal MRI-based changes in intracranial volume and skull thickness observed in both metachromatic leukodystrophy and multiple sclerosis.

Journal: NeuroImage. Clinical
Published: November 24, 2025

Progress and challenges in intrathecal gene therapy for neurological disorders.

Progress and challenges in intrathecal gene therapy for neurological disorders.

Journal: EBioMedicine
Published: November 05, 2025

Prenatal Screening for Fetal X-Linked Ichthyosis: A Large Cohort Study Combining Non-Invasive Prenatal Testing and Maternal Serum Unconjugated Estriol Analysis.

Prenatal Screening for Fetal X-Linked Ichthyosis: A Large Cohort Study Combining Non-Invasive Prenatal Testing and Maternal Serum Unconjugated Estriol Analysis.

Journal: Prenatal diagnosis
Published: October 23, 2025

Enhanced lysosomal exocytosis and altered growth factor signaling are associated with cartilage pathology in a model of mucopolysaccharidosis type IVA.

Enhanced lysosomal exocytosis and altered growth factor signaling are associated with cartilage pathology in a model of mucopolysaccharidosis type IVA.

Journal: Disease models & mechanisms
Published: July 24, 2025

Clinical, biochemical, and molecular characterization of a cohort of Egyptian patients with Sanfilippo B syndrome (MPS IIIB): Bayesian Gaussian mixture model.

Clinical, biochemical, and molecular characterization of a cohort of Egyptian patients with Sanfilippo B syndrome (MPS IIIB): Bayesian Gaussian mixture model.

Journal: Molecular biology reports
Published: July 22, 2025

A case report of multiple system atrophy-mimics: Importance of comprehensive evaluation in suspected familial cases.

A case report of multiple system atrophy-mimics: Importance of comprehensive evaluation in suspected familial cases.

Journal: Medicine
Published: July 09, 2025

Mucopolysaccharidosis type IVA (Morquio A) in twins masquerading as distal renal tubular acidosis.

Mucopolysaccharidosis type IVA (Morquio A) in twins masquerading as distal renal tubular acidosis.

Journal: BMJ case reports
Published: May 23, 2025

Screening of high risk children for lysosomal storage diseases and analysis of disease spectrum

Screening of high risk children for lysosomal storage diseases and analysis of disease spectrum

Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics
Published: May 20, 2025

Exploration Into Lived Experiences of Multiple Sulfatase Deficiency-Affected Individuals and Their Families.

Exploration Into Lived Experiences of Multiple Sulfatase Deficiency-Affected Individuals and Their Families.

Journal: Journal of child neurology
Published: May 14, 2025

Adult-onset metachromatic leukodystrophy: a novel genotype with a distinct phenotype.

Adult-onset metachromatic leukodystrophy: a novel genotype with a distinct phenotype.

Journal: Psychiatric genetics
Published: March 27, 2025
Showing 1-12 of 569

Last Updated: 06/30/2026