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Last Updated: 03/06/2025

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Found 3598 publications

Epidemiology of Mucopolysaccharidosis Type II According to the Register of the Russian Federation.

Epidemiology of Mucopolysaccharidosis Type II According to the Register of the Russian Federation.

Journal: Turkish archives of pediatrics
Published: January 13, 2025

Early investigation of sensorineural hearing loss enables diagnosis of rare metabolic diseases, such as mucopolysaccharidosis type III.

Early investigation of sensorineural hearing loss enables diagnosis of rare metabolic diseases, such as mucopolysaccharidosis type III.

Journal: BMJ case reports
Published: January 04, 2025

Quality of Life and Related Factors in Patients Diagnosed with Mucopolysaccharidosis and Their Caregivers.

Quality of Life and Related Factors in Patients Diagnosed with Mucopolysaccharidosis and Their Caregivers.

Journal: Klinische Padiatrie
Published: December 10, 2024

Morphological abnormalities in the white blood cells of a baby with type VI mucopolysaccharidosis.

Morphological abnormalities in the white blood cells of a baby with type VI mucopolysaccharidosis.

Journal: Annales de biologie clinique
Published: November 29, 2024

The Role of Gene Expression Dysregulation in the Pathogenesis of Mucopolysaccharidosis: A Comparative Analysis of Shared and Specific Molecular Markers in Neuronopathic and Non-Neuronopathic Types of the Disease.

The Role of Gene Expression Dysregulation in the Pathogenesis of Mucopolysaccharidosis: A Comparative Analysis of Shared and Specific Molecular Markers in Neuronopathic and Non-Neuronopathic Types of the Disease.

Journal: International journal of molecular sciences
Published: November 19, 2024

Generation of an induced pluripotent stem cell line (TRNDi042-A) from a Mucopolysaccharidosis type IIIB patient with homozygous p. R626X (c. 1876C > T) mutation in the NAGLU gene.

Generation of an induced pluripotent stem cell line (TRNDi042-A) from a Mucopolysaccharidosis type IIIB patient with homozygous p. R626X (c. 1876C > T) mutation in the NAGLU gene.

Journal: Stem cell research
Published: November 09, 2024

Adeno-Associated Virus Gene Transfer Ameliorates Progression of Skeletal Lesions in Mucopolysaccharidosis IVA Mice.

Adeno-Associated Virus Gene Transfer Ameliorates Progression of Skeletal Lesions in Mucopolysaccharidosis IVA Mice.

Journal: Human gene therapy
Published: October 25, 2024

Lentiviral Vector-Mediated Ex Vivo Hematopoietic Stem Cell Gene Therapy for Mucopolysaccharidosis IVA Murine Model.

Lentiviral Vector-Mediated Ex Vivo Hematopoietic Stem Cell Gene Therapy for Mucopolysaccharidosis IVA Murine Model.

Journal: Human gene therapy
Published: October 24, 2024

Risk and clinical characteristics of spinal cord compression across different mucopolysaccharidosis types: A retrospective cohort study.

Risk and clinical characteristics of spinal cord compression across different mucopolysaccharidosis types: A retrospective cohort study.

Journal: Medicine
Published: October 21, 2024

Development and longitudinal neurocognitive functioning in mucopolysaccharidosis type IIIC: a case study.

Development and longitudinal neurocognitive functioning in mucopolysaccharidosis type IIIC: a case study.

Journal: Journal of applied genetics
Published: October 10, 2024

Exploratory metabolomic profiling of plasma and urine in patients with mucopolysaccharidosis type II (Hunter syndrome): A pilot study.

Exploratory metabolomic profiling of plasma and urine in patients with mucopolysaccharidosis type II (Hunter syndrome): A pilot study.

Journal: Molecular genetics and metabolism
Published: October 07, 2024

Long-term outcomes of enzyme replacement therapy from a large cohort of Korean patients with mucopolysaccharidosis IVA (Morquio A syndrome).

Long-term outcomes of enzyme replacement therapy from a large cohort of Korean patients with mucopolysaccharidosis IVA (Morquio A syndrome).

Journal: Molecular genetics and metabolism reports
Published: September 25, 2024
Showing 1-12 of 3,598

Last Updated: 03/06/2025