Last Updated: 09/26/2026
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Found 14 publications
Nebulized and intravenous enzyme replacement therapy in mice with mucopolysaccharidosis type II.
Journal: PloS one
Published: September 01, 2024
Recurrent, non-traumatic, non-exertional rhabdomyolysis after immunologic stimuli in a healthy adolescent female: a case report.
Journal: BMC pediatrics
Published: May 14, 2022
Lose the lipid: renoprotection conferred by Gb3 synthase knockout.
Journal: Kidney international
Published: March 19, 2019
Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.
Journal: Hepatology (Baltimore, Md.)
Published: June 14, 2018
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.
Journal: Wellcome open research
Published: April 17, 2018
CD77 levels over enzyme replacement treatment in Fabry Disease Family (V269M).
Journal: Jornal brasileiro de nefrologia
Published: September 13, 2017
Characterization and phosphoproteomic analysis of a human immortalized podocyte model of Fabry disease generated using CRISPR/Cas9 technology.
Journal: American journal of physiology. Renal physiology
Published: May 05, 2016
Altered dynamics of a lipid raft associated protein in a kidney model of Fabry disease.
Journal: Molecular genetics and metabolism
Published: October 11, 2013
Last Updated: 09/26/2026