Dau-Ming Niu Selected Research

6-pyruvoyl-tetrahydropterin synthase deficiency

11/2011	Disorders of BH4 metabolism and the treatment of patients with 6-pyruvoyl-tetrahydropterin synthase deficiency in Taiwan.
10/2010	Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan.
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.

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Dau-Ming Niu Research Topics

Disease

17	Fabry Disease (Fabry's Disease) 01/2022 - 02/2006
14	Mucopolysaccharidoses 12/2020 - 12/2010
8	Glycogen Storage Disease Type II (Pompe's Disease) 01/2022 - 01/2014
6	Phenylketonurias (Phenylketonuria) 09/2018 - 03/2004
5	Mucopolysaccharidosis IV (Morquio Syndrome) 10/2019 - 02/2014
5	Neoplasms (Cancer) 01/2017 - 04/2002
4	Cardiomyopathies (Cardiomyopathy) 01/2022 - 10/2016
4	Methylmalonic acidemia 01/2022 - 09/2009
4	Lysosomal Storage Diseases (Lysosomal Storage Disease) 01/2018 - 04/2014
4	Homocystinuria 12/2015 - 12/2007
4	6-pyruvoyl-tetrahydropterin synthase deficiency 11/2011 - 02/2006
3	Left Ventricular Hypertrophy (Ventricular Hypertrophy, Left) 01/2022 - 07/2014
3	Gaucher Disease (Gaucher's Disease) 12/2020 - 09/2019
3	Metabolic Diseases (Metabolic Disease) 11/2020 - 05/2010
3	Propionic Acidemia 01/2019 - 10/2014
3	Citrullinemia 09/2018 - 10/2010
3	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 01/2018 - 11/2013
3	Marfan Syndrome (Marfan's Syndrome) 11/2009 - 12/2005
2	Hypothyroidism 12/2021 - 01/2010
2	Sitosterolemia 09/2021 - 08/2014
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2021 - 01/2012
2	Angiokeratoma 10/2020 - 01/2018
2	Pain (Aches) 10/2020 - 01/2004
2	Mucopolysaccharidosis III (Sanfilippo Syndrome) 10/2019 - 01/2019
2	Medium chain acyl CoA dehydrogenase deficiency 09/2018 - 10/2010
2	Hypohidrosis 01/2018 - 01/2004
2	Mucopolysaccharidosis VI (Syndrome, Maroteaux-Lamy) 01/2016 - 12/2010
2	Rhabdomyolysis 03/2015 - 10/2009
2	Atherosclerosis 03/2015 - 05/2010
2	Hyperthermia 10/2014 - 01/2004
2	Muscle Hypotonia (Hypotonia) 10/2014 - 01/2014
2	Weight Gain 09/2009 - 03/2008
2	Congenital Adrenal Hyperplasia (Hyperplasia, Congenital Adrenal) 04/2008 - 01/2002
2	Craniopharyngioma (Craniopharyngiomas) 03/2008 - 04/2002
1	Combined Pituitary Hormone Deficiency 12/2021
1	Thrombocytopenia (Thrombopenia) 09/2021
1	Anemia 09/2021
1	Splenomegaly 09/2021
1	Mucopolysaccharidosis II (Hunter Syndrome) 01/2021
1	COVID-19 12/2020
1	Infections 12/2020
1	Neuralgia (Stump Neuralgia) 10/2020
1	Disease Progression 01/2019
1	Renal Insufficiency (Renal Failure) 01/2018
1	Hereditary Corneal Dystrophies 01/2018

Drug/Important Bio-Agent (IBA)

13	EnzymesIBA 01/2021 - 03/2007
6	GlycosaminoglycansIBA 11/2020 - 02/2014
5	6-pyruvoyltetrahydropterin synthase (PTPS)IBA 11/2011 - 03/2004
4	Growth Hormone (Somatotropin)IBA 12/2021 - 04/2002
3	Hormones (Hormone)IBA 12/2021 - 03/2008
3	GlucosidasesIBA 01/2021 - 02/2015
3	GalactosidasesIBA 09/2020 - 01/2018
3	globotriaosylceramide (globotriosylceramide)IBA 01/2019 - 01/2017
3	Amino Acids FDA Link 09/2018 - 12/2007
3	GlycosphingolipidsIBA 01/2018 - 10/2016
3	DNA (Deoxyribonucleic Acid)IBA 01/2018 - 12/2012
3	Biomarkers (Surrogate Marker)IBA 03/2017 - 11/2013
3	globotriaosyl lysosphingolipidIBA 01/2017 - 01/2013
3	CholesterolIBA 03/2015 - 06/2005
3	Proteins (Proteins, Gene)FDA Link 09/2012 - 03/2007
3	Fibrillin-1IBA 11/2009 - 12/2005
2	agalsidase alfaIBA 01/2022 - 04/2014
2	LipidsIBA 09/2021 - 03/2015
2	Anesthetics (Anesthetic Agents)IBA 01/2021 - 10/2014
2	AcidsIBA 01/2021 - 07/2017
2	CreatinineIBA 10/2020 - 10/2009
2	Heparitin Sulfate (Heparan Sulfate)IBA 01/2019 - 11/2018
2	Keratan SulfateIBA 11/2018 - 02/2014
2	Fatty Acids (Saturated Fatty Acids)IBA 09/2018 - 10/2010
2	3-methylcrotonyl CoA carboxylase 1 deficiencyIBA 09/2018 - 10/2010
2	N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B)IBA 01/2016 - 12/2010
2	Methionine (L-Methionine)FDA Link 12/2015 - 04/2012
2	Creatine Kinase (Creatine Phosphokinase)IBA 01/2014 - 10/2009
2	CatecholaminesIBA 11/2011 - 02/2006
2	Serotonin (5 Hydroxytryptamine)IBA 11/2011 - 02/2006
2	Neurotransmitter Agents (Neurotransmitter)IBA 11/2011 - 02/2006
2	Phenylalanine (L-Phenylalanine)FDA Link 11/2011 - 10/2010
2	Steroid 21-Hydroxylase (21 Hydroxylase)IBA 04/2008 - 01/2002
1	Ezetimibe (Zetia)FDA Link 09/2021
1	Adenosine Triphosphate (ATP)IBA 09/2021
1	gamma-sitosterol (beta-sitosterol)IBA 09/2021
1	ReninIBA 12/2020
1	AngiotensinsIBA 12/2020
1	AlbuminsIBA 10/2020
1	TroponinIBA 10/2020
1	GlycolipidsIBA 09/2020
1	N 30IBA 10/2019
1	Coloring Agents (Dyes)IBA 10/2019
1	Tolonium Chloride FDA Link 01/2019
1	Lysosomal-Associated Membrane Protein 1IBA 01/2019
1	dimethylmethylene blueIBA 11/2018
1	Dermatan SulfateIBA 11/2018
1	methylcyanocarbamate dimerIBA 09/2018
1	IGF-I-IGFBP-3 complex FDA Link 01/2018

Therapy/Procedure

22	Enzyme Replacement Therapy 01/2022 - 12/2010
7	Therapeutics 01/2021 - 04/2002
5	Liver Transplantation 01/2022 - 05/2010
2	General Anesthesia 01/2021 - 10/2014
1	Bronchoscopes 01/2022
1	Hematopoietic Stem Cell Transplantation 12/2020