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Last Updated: 09/18/2023

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Found 13 publications

AAV gene therapy for Tay-Sachs disease.

Condition: Tay-Sachs Disease (TSD)
Journal: Nature medicine
Treatment Used: Adeno-Associated Virus (AAV) Gene Therapy
Number of Patients: 2
Published: February 11, 2022

Rare coexistence of Tay-Sachs disease, coarctation of the aorta and grade V vesicoureteral reflux.

Journal: Archivos argentinos de pediatria
Published: January 24, 2022

Late-infantile GM1 gangliosidosis: A case report.

Journal: Medicine
Published: January 14, 2022

Atypical presentation of late-onset Sandhoff disease: a case report.

Journal: Ideggyogyaszati szemle
Published: December 02, 2021

L-Arginine Ameliorates Defective Autophagy in GM2 Gangliosidoses by mTOR Modulation.

Journal: Cells
Published: November 27, 2021

Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease.

Journal: The Cochrane database of systematic reviews
Published: October 11, 2021

Rapid Identification of New Biomarkers for the Classification of GM1 Type 2 Gangliosidosis Using an Unbiased 1H NMR-Linked Metabolomics Strategy.

Journal: Cells
Published: April 03, 2021

Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants.

Journal: Scientific reports
Published: February 06, 2021

A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders.

Journal: Orphanet journal of rare diseases
Published: January 10, 2021

Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients.

Journal: BMC pediatrics
Published: January 07, 2021

Morquio B Disease. Disease Characteristics and Treatment Options of a Distinct GLB1-Related Dysostosis Multiplex.

Journal: International journal of molecular sciences
Published: December 03, 2020

Optimization of Enzyme Essays to Enhance Reliability of Activity Measurements in Leukocyte Lysates for the Diagnosis of Metachromatic Leukodystrophy and Gangliosidoses.

Journal: Cells
Published: December 02, 2020
Showing 1-12 of 13

Last Updated: 09/18/2023