Ni-Chung Lee Selected Research

6-pyruvoyl-tetrahydropterin synthase deficiency

11/2023	Late-onset symptomatic hyperprolactinemia in 6-pyruvoyl-tetrahydropterin synthase deficiency.
3/2008	Long-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency.
2/2006	Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency.

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!

Ni-Chung Lee Research Topics

Disease

22	Glycogen Storage Disease Type II (Pompe's Disease) 01/2024 - 09/2006
7	Gaucher Disease (Gaucher's Disease) 04/2024 - 09/2010
5	Aromatic amino acid decarboxylase deficiency 09/2023 - 04/2014
5	Fabry Disease (Fabry's Disease) 01/2020 - 02/2006
4	Muscle Hypotonia (Hypotonia) 04/2022 - 06/2011
4	Cardiomyopathies (Cardiomyopathy) 06/2018 - 08/2008
3	Phenylketonurias (Phenylketonuria) 11/2023 - 02/2006
3	6-pyruvoyl-tetrahydropterin synthase deficiency 11/2023 - 02/2006
3	Lysosomal Storage Diseases (Lysosomal Storage Disease) 09/2023 - 01/2014
3	Inborn Errors Metabolism (Inborn Errors of Metabolism) 02/2023 - 02/2013
3	Biliary Atresia 01/2023 - 08/2008
3	Mitochondrial Diseases (Mitochondrial Disease) 11/2022 - 10/2011
3	Adult-onset citrullinemia type 2 01/2022 - 08/2006
3	Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia) 09/2021 - 08/2012
3	Methylmalonic acidemia 01/2019 - 11/2008
3	Infections 05/2013 - 01/2004
3	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 01/2011 - 08/2008
2	Mucolipidoses (Sialidosis) 02/2024 - 01/2020
2	Gliosis 02/2024 - 06/2018
2	Leigh Disease (Leigh's Disease) 09/2023 - 08/2008
2	Inborn Genetic Diseases (Disease, Hereditary) 05/2023 - 12/2016
2	Dystonia (Limb Dystonia) 01/2023 - 01/2018
2	Muscular Diseases (Myopathy) 01/2023 - 06/2017
2	Osteogenesis Imperfecta (Lobstein Disease) 01/2023 - 08/2014
2	Dyskinesias (Dyskinesia) 01/2022 - 12/2017
2	Mitochondrial Myopathies (Mitochondrial Myopathy) 09/2021 - 08/2012
2	Mucopolysaccharidoses 01/2020 - 12/2010
2	Apnea 01/2019 - 03/2013
2	Alzheimer Disease (Alzheimer's Disease) 07/2017 - 01/2016
2	Down Syndrome (Down's Syndrome) 07/2017 - 01/2016
2	Glycogen Storage Disease (Glycogenosis) 02/2013 - 06/2009
2	VLCAD deficiency 01/2013 - 08/2012
2	Neonatal-onset citrullinemia type 2 08/2008 - 08/2006
1	Epilepsy (Aura) 04/2024
1	Osteoporosis 04/2024
1	Galactosemias (Galactosemia) 03/2024
1	Ataxia (Dyssynergia) 02/2024
1	Neuraminidase 1 deficiency 02/2024
1	Seizures (Absence Seizure) 02/2024
1	Myoclonus (Nocturnal Myoclonus) 02/2024
1	Blindness (Hysterical Blindness) 02/2024
1	Menstruation Disturbances 11/2023
1	Amenorrhea 11/2023
1	Hepatorenal form of glycogen storage disease 10/2023
1	Type C Niemann-Pick Disease (Niemann Pick Disease, Type C) 07/2023
1	Oncogenic osteomalacia 01/2023
1	Vasculitis (Vasculitides) 01/2023
1	Hoyeraal Hreidarsson syndrome 10/2022

Drug/Important Bio-Agent (IBA)

11	AcidsIBA 01/2024 - 07/2008
8	GlycogenIBA 11/2020 - 09/2006
7	Mitochondrial DNA (mtDNA)IBA 01/2023 - 08/2008
6	GlucosidasesIBA 01/2024 - 06/2011
6	EnzymesIBA 01/2023 - 08/2009
4	alpha-Glucosidases (Acid Maltase)IBA 01/2023 - 07/2008
4	Biomarkers (Surrogate Marker)IBA 01/2022 - 01/2015
4	human GAA protein (Myozyme)FDA Link 06/2020 - 04/2015
3	6-pyruvoyltetrahydropterin synthase (PTPS)IBA 11/2023 - 02/2006
3	3-methoxytyrosineIBA 09/2023 - 04/2014
3	Neurotransmitter Agents (Neurotransmitter)IBA 01/2022 - 02/2006
3	Carnitine (L-Carnitine)FDA LinkGeneric 02/2013 - 08/2006
3	GlycosphingolipidsIBA 07/2012 - 10/2009
2	Proteins (Proteins, Gene)FDA Link 04/2024 - 02/2024
2	Glucosylceramidase (Glucocerebrosidase)IBA 04/2024 - 01/2023
2	Neuraminidase (Sialidase)IBA 02/2024 - 01/2020
2	ProlactinIBA 11/2023 - 01/2011
2	CitrullineIBA 01/2022 - 02/2013
2	Tyrosine (L-Tyrosine)FDA Link 10/2021 - 06/2006
2	Lysergic Acid Diethylamide (LSD)IBA 01/2020 - 04/2010
2	coenzyme Q10 (CoQ10)IBA 01/2019 - 08/2008
2	Insulin (Novolin)FDA Link 01/2019 - 02/2009
2	Systemic carnitine deficiencyIBA 02/2013 - 01/2013
2	GalactosidasesIBA 07/2012 - 01/2011
2	CreatinineIBA 01/2011 - 01/2011
2	chitotriosidaseIBA 09/2010 - 01/2010
2	alpha-Galactosidase (Beano)IBA 10/2009 - 02/2006
1	Nonsense Codon (Nonsense Mutation)IBA 04/2024
1	InflammasomesIBA 04/2024
1	Galactose (Galactopyranose)FDA LinkGeneric 03/2024
1	5'-deoxy-5'-phosphonomethyladenosine phosphateIBA 02/2024
1	Cathepsin AIBA 02/2024
1	Dopamine Agonists (Dopamine Agonist)IBA 11/2023
1	Cabergoline FDA LinkGeneric 11/2023
1	sapropterin (tetrahydrobiopterin)FDA Link 11/2023
1	Starch (Cornstarch)IBA 10/2023
1	Electron Transport Complex I (NADH-CoQ Reductase)IBA 09/2023
1	Factor V (Coagulation Factor V)IBA 09/2023
1	HydrolasesIBA 09/2023
1	SphingolipidsIBA 07/2023
1	CholesterolIBA 07/2023
1	CopperIBA 05/2023
1	Oxidoreductases (Dehydrogenase)IBA 01/2023
1	PyrrolidinesIBA 01/2023
1	Inosine Monophosphate (IMP)IBA 01/2023
1	CollagenIBA 01/2023
1	Matrix Metalloproteinase 7 (Matrilysin)IBA 01/2023
1	Ion Channels (Ion Channel)IBA 11/2022

Therapy/Procedure

13	Enzyme Replacement Therapy 04/2024 - 09/2006
7	Therapeutics 01/2024 - 06/2009
2	Liver Transplantation 12/2022 - 01/2019
2	Aftercare (After-Treatment) 12/2017 - 05/2010