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Gangliosidosis Latest Advances
Find the Latest Research About Gangliosidosis
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Last Updated: 09/18/2023
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Found 13 publications
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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
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Rare coexistence of Tay-Sachs disease, coarctation of the aorta and grade V vesicoureteral reflux.
Journal:
Archivos argentinos de pediatria
Published:
January 24, 2022
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Late-infantile GM1 gangliosidosis: A case report.
Journal:
Medicine
Published:
January 14, 2022
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Atypical presentation of late-onset Sandhoff disease: a case report.
Journal:
Ideggyogyaszati szemle
Published:
December 02, 2021
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L-Arginine Ameliorates Defective Autophagy in GM2 Gangliosidoses by mTOR Modulation.
Journal:
Cells
Published:
November 27, 2021
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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
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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
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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
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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
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Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients.
Journal:
BMC pediatrics
Published:
January 07, 2021
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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
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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
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Last Updated: 09/18/2023