Hyo-sang Do

Seoul, Republic of Korea

Last Updated: 09/26/2026

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Found 18 publications

Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome.

Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome.

Journal: Journal of human genetics

Published: September 05, 2024

Therapeutic effects of lomerizine on vasculopathy in Fabry disease.

Therapeutic effects of lomerizine on vasculopathy in Fabry disease.

Journal: Scientific reports

Published: March 25, 2024

Clinical and molecular characteristics of Korean patients with Kabuki syndrome.

Clinical and molecular characteristics of Korean patients with Kabuki syndrome.

Journal: Journal of human genetics

Published: February 23, 2024

Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature.

Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature.

Journal: Molecular genetics & genomic medicine

Published: January 24, 2024

A 10-year follow-up of high-dose ambroxol treatment combined with enzyme replacement therapy for neuropathic Gaucher disease.

A 10-year follow-up of high-dose ambroxol treatment combined with enzyme replacement therapy for neuropathic Gaucher disease.

Journal: American journal of hematology

Published: December 19, 2023

Genetic heterogeneity of cardiomyopathy and its correlation with patient care.

Genetic heterogeneity of cardiomyopathy and its correlation with patient care.

Journal: BMC medical genomics

Published: January 28, 2023

Fasudil alleviates the vascular endothelial dysfunction and several phenotypes of Fabry disease.

Fasudil alleviates the vascular endothelial dysfunction and several phenotypes of Fabry disease.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy

Published: October 27, 2022

Generation of a CRISPR/Cas9-corrected-hiPSC line (DDLABi001-A) from Fabry disease (FD)-derived iPSCs having α-galactosidase (GLA) gene mutation (c.803_806del).

Generation of a CRISPR/Cas9-corrected-hiPSC line (DDLABi001-A) from Fabry disease (FD)-derived iPSCs having α-galactosidase (GLA) gene mutation (c.803_806del).

Journal: Stem cell research

Published: September 14, 2022

Therapeutic gene correction for Lesch-Nyhan syndrome using CRISPR-mediated base and prime editing.

Therapeutic gene correction for Lesch-Nyhan syndrome using CRISPR-mediated base and prime editing.

Journal: Molecular therapy. Nucleic acids

Published: August 12, 2022

Clinical and genetic analyses of patients with lateralized overgrowth.

Clinical and genetic analyses of patients with lateralized overgrowth.

Journal: BMC medical genomics

Published: June 01, 2022

Identification of a novel therapeutic target underlying atypical manifestation of Gaucher disease.

Identification of a novel therapeutic target underlying atypical manifestation of Gaucher disease.

Journal: Clinical and translational medicine

Published: January 17, 2022

Case Report: Mevalonic Aciduria Complicated by Acute Myeloid Leukemia After Hematopoietic Stem Cell Transplantation.

Case Report: Mevalonic Aciduria Complicated by Acute Myeloid Leukemia After Hematopoietic Stem Cell Transplantation.

Journal: Frontiers in immunology

Published: September 24, 2021

Showing 1-12 of 18

Last Updated: 09/26/2026