Beom Hee Lee Selected Research

Mitochondrial DNA (mtDNA)

2/2022	Clinical and genetic features of four patients with Pearson syndrome: An observational study.
1/2021	De Novo Development of mtDNA Deletion Due to Decreased POLG and SSBP1 Expression in Humans.

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.

Realize the full power of the drug-disease research graph!

Beom Hee Lee Research Topics

Disease

8	Gaucher Disease (Gaucher's Disease) 01/2021 - 02/2012
5	Fabry Disease (Fabry's Disease) 11/2017 - 08/2010
4	Muscle Hypotonia (Hypotonia) 12/2020 - 02/2014
4	Noonan Syndrome (Female Pseudo-Turner Syndrome) 01/2020 - 12/2011
4	Hyperplasia 01/2017 - 04/2011
3	VLCAD deficiency 02/2022 - 01/2018
3	Ornithine Carbamoyltransferase Deficiency Disease 02/2022 - 09/2013
3	Inborn Urea Cycle Disorders 02/2022 - 09/2013
3	Neurologic Manifestations (Neurological Manifestations) 11/2020 - 10/2009
3	Hepatolenticular Degeneration (Wilson's Disease) 01/2020 - 10/2009
3	Congenital Adrenal Hyperplasia (Hyperplasia, Congenital Adrenal) 01/2017 - 04/2011
3	Menkes Kinky Hair Syndrome (Menkes Disease) 09/2015 - 02/2014
2	Intellectual Disability (Idiocy) 11/2021 - 10/2021
2	Pneumothorax 05/2021 - 01/2021
2	Disease Progression 05/2021 - 11/2016
2	Failure to Thrive 11/2019 - 08/2017
2	Intrahepatic Cholestasis 09/2019 - 02/2017
2	Inflammation (Inflammations) 11/2017 - 10/2009
2	Hypothyroidism 03/2016 - 01/2015
2	Liver Failure 08/2015 - 01/2012
2	Hepatomegaly 06/2015 - 01/2012
2	Chronic Pancreatitis 05/2013 - 04/2011
2	Proteinuria 11/2009 - 11/2006
2	Nephrotic Syndrome (Syndrome, Nephrotic) 01/2009 - 06/2008
1	Osteogenesis Imperfecta (Lobstein Disease) 03/2022
1	Mitochondrial cytopathy 02/2022
1	Bone Marrow Failure Disorders 02/2022
1	Diarrhea 01/2022
1	Plexiform Neurofibroma 01/2022
1	Neurofibromatosis 1 (Neurofibromatosis Type I) 01/2022
1	Costello Syndrome 10/2021
1	Methylmalonic acidemia 05/2021
1	Anemia 04/2021
1	Systemic Lupus Erythematosus (Libman-Sacks Disease) 04/2021
1	Reinfection 04/2021
1	Thrombocytopenia (Thrombopenia) 04/2021
1	Acute Myeloid Leukemia (Acute Myelogenous Leukemia) 01/2021
1	Urinary Calculi (Urinary Calculus) 01/2021
1	Cough 01/2021
1	Hemoptysis 01/2021
1	Mevalonate Kinase Deficiency 01/2021
1	Kidney Diseases (Kidney Disease) 01/2021
1	Papillorenal syndrome 01/2021
1	Infarction (Infarctions) 01/2021
1	Infantile Hypercalcemia 01/2021
1	Parkinson Disease (Parkinson's Disease) 01/2021
1	Sepsis (Septicemia) 01/2021
1	Contracture 12/2020
1	Inborn Genetic Diseases (Disease, Hereditary) 12/2020

Drug/Important Bio-Agent (IBA)

6	EnzymesIBA 11/2017 - 01/2012
4	Urea (Carbamide)FDA LinkGeneric 02/2022 - 03/2011
4	Proteins (Proteins, Gene)FDA Link 10/2021 - 11/2011
4	CopperIBA 02/2015 - 10/2009
3	Amino Acids FDA Link 02/2022 - 05/2010
3	Glucosylceramidase (Glucocerebrosidase)IBA 11/2020 - 02/2012
3	Arginine (L-Arginine)FDA Link 07/2018 - 03/2011
2	Mitochondrial DNA (mtDNA)IBA 02/2022 - 01/2021
2	AmmoniaIBA 02/2022 - 09/2015
2	Sucrose (Saccharose)IBA 11/2021 - 10/2021
2	C-Reactive ProteinIBA 04/2021 - 02/2019
2	Ambroxol (Mucosolvan)IBA 01/2021 - 01/2020
2	Pharmaceutical PreparationsIBA 01/2021 - 01/2020
2	CitrullineIBA 11/2019 - 02/2017
2	globotriaosylceramide (globotriosylceramide)IBA 11/2017 - 07/2017
2	ProteomeIBA 11/2017 - 10/2009
2	Blood Proteins (Serum Proteins)IBA 11/2017 - 10/2009
2	GalactosidasesIBA 07/2017 - 04/2012
2	KATP ChannelsIBA 06/2017 - 01/2015
2	Transcription Factors (Transcription Factor)IBA 05/2017 - 08/2015
2	CalciumIBA 03/2016 - 06/2013
2	Human Growth Hormone (Saizen)FDA LinkGeneric 03/2016 - 01/2012
2	Parathyroid Hormone (Parathormone)IBA 12/2015 - 06/2013
2	Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)IBA 09/2015 - 09/2013
2	Biomarkers (Surrogate Marker)IBA 05/2014 - 10/2009
2	TrypsinogenIBA 05/2013 - 04/2011
2	Kazal Pancreatic Trypsin InhibitorIBA 05/2013 - 04/2011
2	SteroidsIBA 04/2011 - 11/2006
1	Collagen Type I (Type I Collagen)IBA 03/2022
1	Pamidronate (Aredia)FDA LinkGeneric 03/2022
1	Ligases (Synthetase)IBA 02/2022
1	Carbamyl Phosphate (Carbamoyl Phosphate)IBA 02/2022
1	Argininosuccinate Synthase (Argininosuccinate Synthetase)IBA 02/2022
1	AZD 6244IBA 01/2022
1	Creatine Kinase (Creatine Phosphokinase)IBA 01/2022
1	Adenine phosphoribosyltransferase deficiencyIBA 01/2021
1	Vitamin D3 24-HydroxylaseIBA 01/2021
1	Mevalonic Acid (Mevalonate)IBA 01/2021
1	Expectorants (Mucolytics)IBA 01/2021
1	DNA (Deoxyribonucleic Acid)IBA 12/2020
1	Sodium Channel BlockersIBA 11/2020

Therapy/Procedure

6	Therapeutics 03/2022 - 01/2012
4	Ligation 02/2019 - 09/2013
4	Enzyme Replacement Therapy 11/2017 - 03/2012
3	Hematopoietic Stem Cell Transplantation 02/2022 - 01/2021
3	Liver Transplantation 05/2021 - 08/2015
1	Pleurodesis 05/2021
1	Chest Tubes (Chest Tube) 01/2021
1	Colectomy 01/2021
1	Transplantation 01/2021
1	Artificial Respiration (Mechanical Ventilation) 12/2020