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List of works by Jin-Sung Lee

A novel compound heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrine syndrome type 1

scientific article published on 31 December 2019

A phase 2 multi-center, open-label, switch-over trial to evaluate the safety and efficacy of Abcertin® in patients with type 1 Gaucher disease.

scientific article

Acute treatment of hyperammonemia by continuous renal replacement therapy in a newborn patient with ornithine transcarbamylase deficiency.

scientific article published on 31 October 2011

Alpers-Huttenlocher Syndrome First Presented with Hepatic Failure: Can Liver Transplantation Be Considered as Treatment Option?

scientific article published on 22 December 2017

Effect of Topical Na-Hyaluronan on Hemidesmosome Formation in n-Heptanol-Induced Corneal Injury ⬇️

scientific article published on 01 January 1998

Expression of genes involved in mammalian meiosis during the transition from egg to embryo.

scientific article published in June 2001

Genitopatellar Syndrome Secondary to Mutation: The First Genetically Confirmed Case in South Korea

scientific article published on 01 April 2019

Identification of disease comorbidity through hidden molecular mechanisms

scientific article published on 19 December 2016

Implementation of a Targeted Next-Generation Sequencing Panel for Constitutional Newborn Screening in High-Risk Neonates

scientific article published on 01 November 2019

MedRefSNP: a database of medically investigated SNPs.

scientific article published on March 2009

Mucocutaneous Telangiectasia as a Diagnostic Clue of Hereditary Hemorrhagic Telangiectasia: An Activin Receptor-Like Kinase-1 Mutation in a Korean Patient

scientific article published on 31 March 2016

The First Case Series of Cryopyrin-Associated Periodic Syndrome in Korea

scientific article published on 01 July 2019

The First Case of Familial Mediterranean Fever Associated with Renal Amyloidosis in Korea ⬇️

scientific article published on March 1, 2012

Variations in plasma and urinary lipids in response to enzyme replacement therapy for Fabry disease patients by nanoflow UPLC-ESI-MS/MS.

scientific article published on 12 February 2016

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