Multiple Sulfatase Deficiency Latest Advances
Find the Latest Research About Multiple Sulfatase Deficiency
Last Updated: 02/24/2026
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Found 561 publications
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
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
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.
Journal: Journal of child neurology
Published: May 14, 2025
Adult-onset metachromatic leukodystrophy: a novel genotype with a distinct phenotype.
Journal: Psychiatric genetics
Published: March 27, 2025
Assessment of different promoters in lentiviral vectors for expression of the N-acetyl-galactosamine-6-sulfate sulfatase gene.
Journal: Journal of human genetics
Published: March 13, 2025
Entering the playing field: Therapy for multiple sulfatase deficiency.
Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: October 10, 2024
Profiling and semi-quantitation of urine sulfatides by UHPLC-Orbitrap-HRMS.
Journal: Analytica chimica acta
Published: September 12, 2024
Blood Biomarkers Reflecting Brain Pathology-From Common Grounds to Rare Frontiers.
Journal: Journal of inherited metabolic disease
Published: September 05, 2024
College of American Pathologists (CAP)/American College of Medical Genetics and Genomics (ACMG) proficiency testing for urinary glycosaminoglycan analysis: A summary of performance.
Journal: Genetics in medicine open
Published: September 03, 2024
Last Updated: 02/24/2026