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A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing.

artículo científico publicado en 2018

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.

artículo científico publicado en 2015

Complete Recovery of Oxysterol 7α-Hydroxylase Deficiency by Living Donor Transplantation in a 4-Month-Old Infant: the First Korean Case Report and Literature Review

artículo científico publicado en 2018

Diabetes mellitus caused by secondary hemochromatosis after multiple blood transfusions in 2 patients with severe aplastic anemia.

artículo científico publicado en 2017

Efficacy of Living Donor Liver Transplantation in Patients with Methylmalonic Acidemia

scientific article published in 2021

Hepatopulmonary syndrome caused by hypothalamic obesity and nonalcoholic fatty liver disease after surgery for craniopharyngioma: a case report.

artículo científico publicado en 2018

Long-term endocrine effects and trends in body mass index changes in patients with childhood-onset brain tumors.

artículo científico publicado en 2018

Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1

scientific article published on 11 September 2019

Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia

artículo científico

Prevalence of Fabry Disease in Korean Men with Left Ventricular Hypertrophy

artículo científico publicado en 2019

The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects

artículo científico publicado en 2020

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