Galactosialidosis Related Papers

February 2024
Gene therapy corrects the neurological deficits of mice with sialidosis
November 2023
AAV-mediated gene therapy for Sialidosis
January 2023
Gene therapy for lysosomal storage diseases: Current clinical trial prospects
November 2022
Clinical spectrum and outcome of nine patients with a novel genetic variant of Galactosialidosis in the Kingdom of Bahrain
May 2022
Blood-brain barrier delivery for lysosomal storage disorders with IgG-lysosomal enzyme fusion proteins
October 2021
AAV-mediated gene therapy for Galactosialidosis: A long-term safety and efficacy study
March 2021
Galactosialidosis: preclinical enzyme replacement therapy in a mouse model of the disease, a proof of concept
June 2020
The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases
November 2018
Use of modified U1 small nuclear RNA for rescue from exon 7 skipping caused by 5′-splice site mutation of human cathepsin A gene
September 2018
Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis
February 2018
[Galactosialidosis: a new “de novo” mutation in CTSA gene in a patient with late infantile galactosialidosis] Argentina
2017
Historic aspects and overview of investigated and emerging treatment options
May 2017
A Turkish case of galactosialidosis with a new homozygous mutation in CTSA gene
December 2016
Elimination of abnormal sialylglycoproteins in fibroblasts with sialidosis and galactosialidosis by normal gene transfer and enzyme replacement
July 2015
Chaperone treatment for galactosialidosis
December 2014
A case of galactosialidosis with novel mutations of the protective protein/cathepsin a gene: diagnosis prompted by trophoblast vacuolization on placental examination
August 2013
Galactosialidosis: review and analysis of CTSA gene mutations
2012
A case of galactosialidosis with renal failure and hippocampal sclerosis (Greece)
July 2010
New CTSA mutation in early infantile galactosialidosis
December 2008
A Brazilian galactosialidosis patient given renal transplantation: a case report
July 1999
Early-Infantile Galactosialidosis: Prenatal Presentation and Postnatal Follow-Up
December 1998
Correction of murine Galactosialidosis by bone marrow
June 1996
Cathepsin A deficiency in galactosialidosis: studies of patients and carriers in 16 families
November 1995
Mouse model for the lysosomal disorder Galactosialidosis and correction
September 1994
Echocardiographic findings in some metabolic storage diseases
May 1995
Hydrops fetalis in four siblings caused by galactosialidosis
April 1992
Heterogeneity of Carboxypeptidase Activity in Infantile-Onset Galactosialidosis
April 1987
Galactosialidosis: a direct evidence that a 46-kilodalton protein restores deficient enzyme activities in fibroblasts
May 1983
beta-Galactosidase-neuraminidase deficiency
1982
Galatosialidosis (beta-galactosidase-neuraminidase deficiency): clinical and biochemical studies on 13 patients

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