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Dau-Ming Niu Selected Research

Therapeutics

1/2023Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study.
1/2021The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.
12/2020Fabry disease and COVID-19: international expert recommendations for management based on real-world experience.
4/2016Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI.
3/2015Clinical observations and treatment of pediatric homozygous familial hypercholesterolemia due to a low-density lipoprotein receptor defect.
12/2012Activation of silenced tumor suppressor genes in prostate cancer cells by a novel energy restriction-mimetic agent.
9/2009Growth hormone therapy in neonatal patients with methylmalonic acidemia.
4/2002Rapid enlargement of a residual craniopharyngioma during short-term growth hormone replacement.

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Dau-Ming Niu Research Topics

Disease

20Fabry Disease (Fabry's Disease)
12/2023 - 02/2006
14Mucopolysaccharidoses
12/2020 - 12/2010
9Glycogen Storage Disease Type II (Pompe's Disease)
01/2023 - 01/2014
6Phenylketonurias (Phenylketonuria)
09/2018 - 03/2004
5Cardiomyopathies (Cardiomyopathy)
12/2023 - 10/2016
5Mucopolysaccharidosis IV (Morquio Syndrome)
10/2019 - 02/2014
5Neoplasms (Cancer)
01/2017 - 04/2002
4Left Ventricular Hypertrophy (Ventricular Hypertrophy, Left)
12/2023 - 07/2014
4Methylmalonic acidemia
01/2022 - 09/2009
4Lysosomal Storage Diseases (Lysosomal Storage Disease)
01/2018 - 04/2014
4Homocystinuria
12/2015 - 12/2007
46-pyruvoyl-tetrahydropterin synthase deficiency
11/2011 - 02/2006
3Gaucher Disease (Gaucher's Disease)
12/2020 - 09/2019
3Metabolic Diseases (Metabolic Disease)
11/2020 - 05/2010
3Propionic Acidemia
01/2019 - 10/2014
3Citrullinemia
09/2018 - 10/2010
3Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy)
01/2018 - 11/2013
3Marfan Syndrome (Marfan's Syndrome)
11/2009 - 12/2005
2Hyperlipidemias (Hyperlipidemia)
05/2024 - 11/2012
2Cardiomegaly (Heart Hypertrophy)
12/2023 - 04/2016
2Mucopolysaccharidosis II (Hunter Syndrome)
06/2022 - 01/2021
2Hypothyroidism
12/2021 - 01/2010
2Sitosterolemia
09/2021 - 08/2014
2Inborn Genetic Diseases (Disease, Hereditary)
01/2021 - 01/2012
2Angiokeratoma
10/2020 - 01/2018
2Pain (Aches)
10/2020 - 01/2004
2Mucopolysaccharidosis III (Sanfilippo Syndrome)
10/2019 - 01/2019
2Medium chain acyl CoA dehydrogenase deficiency
09/2018 - 10/2010
2Hypohidrosis
01/2018 - 01/2004
2Mucopolysaccharidosis VI (Syndrome, Maroteaux-Lamy)
01/2016 - 12/2010
2Rhabdomyolysis
03/2015 - 10/2009
2Atherosclerosis
03/2015 - 05/2010
2Muscle Hypotonia (Hypotonia)
10/2014 - 01/2014
2Hyperthermia
10/2014 - 01/2004
2Weight Gain
09/2009 - 03/2008
2Congenital Adrenal Hyperplasia (Hyperplasia, Congenital Adrenal)
04/2008 - 01/2002
2Craniopharyngioma (Craniopharyngiomas)
03/2008 - 04/2002
1Atrial Fibrillation
05/2024
1Ventricular Tachycardia
05/2024
1Hypertension (High Blood Pressure)
05/2024
1Heart Failure
05/2024
1Ischemic Stroke
05/2024
1Tinnitus
12/2022
1Hearing Loss (Hearing Impairment)
12/2022
1Sudden Hearing Loss (Sudden Deafness)
12/2022
1Combined Pituitary Hormone Deficiency
12/2021
1Anemia
09/2021
1Splenomegaly
09/2021
1Thrombocytopenia (Thrombopenia)
09/2021
1Infections
12/2020
1COVID-19
12/2020

Drug/Important Bio-Agent (IBA)

15EnzymesIBA
01/2023 - 03/2007
7GlycosaminoglycansIBA
06/2022 - 02/2014
56-pyruvoyltetrahydropterin synthase (PTPS)IBA
11/2011 - 03/2004
4globotriaosylceramide (globotriosylceramide)IBA
12/2023 - 01/2017
4GalactosidasesIBA
01/2023 - 01/2018
4Growth Hormone (Somatotropin)IBA
12/2021 - 04/2002
3Hormones (Hormone)IBA
12/2021 - 03/2008
3GlucosidasesIBA
01/2021 - 02/2015
3Amino AcidsFDA Link
09/2018 - 12/2007
3DNA (Deoxyribonucleic Acid)IBA
01/2018 - 12/2012
3GlycosphingolipidsIBA
01/2018 - 10/2016
3Biomarkers (Surrogate Marker)IBA
03/2017 - 11/2013
3globotriaosyl lysosphingolipidIBA
01/2017 - 01/2013
3CholesterolIBA
03/2015 - 06/2005
3Proteins (Proteins, Gene)FDA Link
09/2012 - 03/2007
3Fibrillin-1IBA
11/2009 - 12/2005
2agalsidase alfaIBA
01/2022 - 04/2014
2LipidsIBA
09/2021 - 03/2015
2Anesthetics (Anesthetic Agents)IBA
01/2021 - 10/2014
2AcidsIBA
01/2021 - 07/2017
2CreatinineIBA
10/2020 - 10/2009
2Heparitin Sulfate (Heparan Sulfate)IBA
01/2019 - 11/2018
2Keratan SulfateIBA
11/2018 - 02/2014
23-methylcrotonyl CoA carboxylase 1 deficiencyIBA
09/2018 - 10/2010
2Fatty Acids (Saturated Fatty Acids)IBA
09/2018 - 10/2010
2N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B)IBA
01/2016 - 12/2010
2Methionine (L-Methionine)FDA Link
12/2015 - 04/2012
2Creatine Kinase (Creatine Phosphokinase)IBA
01/2014 - 10/2009
2Phenylalanine (L-Phenylalanine)FDA Link
11/2011 - 10/2010
2Neurotransmitter Agents (Neurotransmitter)IBA
11/2011 - 02/2006
2Serotonin (5 Hydroxytryptamine)IBA
11/2011 - 02/2006
2CatecholaminesIBA
11/2011 - 02/2006
2Steroid 21-Hydroxylase (21 Hydroxylase)IBA
04/2008 - 01/2002
1omega-Chloroacetophenone (Mace)IBA
05/2024
1SteroidsIBA
01/2023
1migalastatIBA
01/2023
1ORALIT (ORS)IBA
12/2022
1Ezetimibe (Zetia)FDA Link
09/2021
1Adenosine Triphosphate (ATP)IBA
09/2021
1gamma-sitosterol (beta-sitosterol)IBA
09/2021
1ReninIBA
12/2020
1AngiotensinsIBA
12/2020

Therapy/Procedure

24Enzyme Replacement Therapy
05/2024 - 12/2010
8Therapeutics
01/2023 - 04/2002
5Liver Transplantation
01/2022 - 05/2010
2General Anesthesia
01/2021 - 10/2014
1Premedication
01/2023
1Bronchoscopes
01/2022
1Hematopoietic Stem Cell Transplantation
12/2020