Yin-Hsiu Chien Selected Research

3-methoxytyrosine

1/2016	3-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency.
4/2014	Diagnosis of aromatic L-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spots.

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Yin-Hsiu Chien Research Topics

Disease

32	Glycogen Storage Disease Type II (Pompe's Disease) 01/2022 - 09/2006
8	Fabry Disease (Fabry's Disease) 01/2020 - 10/2009
6	Gaucher Disease (Gaucher's Disease) 06/2022 - 09/2002
5	Mucopolysaccharidoses 11/2020 - 12/2010
5	Methylmalonic acidemia 01/2019 - 05/2003
5	Hypermethioninemia 01/2017 - 06/2005
4	Muscle Hypotonia (Hypotonia) 04/2022 - 06/2011
4	Phenylketonurias (Phenylketonuria) 01/2020 - 11/2004
4	Cardiomyopathies (Cardiomyopathy) 06/2018 - 09/2007
3	Aromatic amino acid decarboxylase deficiency 01/2022 - 04/2014
3	Adult-onset citrullinemia type 2 01/2022 - 08/2006
3	Metabolic Diseases (Metabolic Disease) 11/2020 - 05/2013
3	Muscular Diseases (Myopathy) 06/2017 - 11/2007
3	Hyper-IgM Immunodeficiency Syndrome (Hyper-IgM Syndrome) 02/2015 - 09/2013
3	Inborn Errors Metabolism (Inborn Errors of Metabolism) 01/2014 - 09/2005
2	Lymphadenopathy 06/2022 - 08/2005
2	Neuromuscular Diseases (Neuromuscular Disease) 07/2021 - 01/2013
2	Mucopolysaccharidosis IV (Morquio Syndrome) 01/2020 - 03/2013
2	Propionic Acidemia 01/2019 - 10/2014
2	Lymphopenia (Lymphocytopenia) 01/2019 - 01/2015
2	Hypothyroidism 01/2018 - 01/2011
2	Alzheimer Disease (Alzheimer's Disease) 07/2017 - 01/2016
2	Down Syndrome (Down's Syndrome) 07/2017 - 01/2016
2	Mucopolysaccharidosis VI (Syndrome, Maroteaux-Lamy) 01/2016 - 12/2010
2	Bronchiectasis 02/2015 - 06/2014
2	Pneumonia (Pneumonitis) 02/2015 - 09/2013
2	Maple Syrup Urine Disease 01/2014 - 10/2010
2	Glycogen Storage Disease (Glycogenosis) 02/2013 - 06/2009
2	Multiple Acyl Coenzyme A Dehydrogenase Deficiency 01/2013 - 10/2011
2	VLCAD deficiency 01/2013 - 08/2012
2	Medium chain acyl CoA dehydrogenase deficiency 01/2013 - 10/2010
2	Citrullinemia 07/2011 - 10/2010
2	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 01/2011 - 05/2010
2	Seizures (Absence Seizure) 07/2009 - 06/2002
2	Infections 06/2009 - 09/2005
2	Obesity 02/2009 - 02/2007
2	Neonatal-onset citrullinemia type 2 08/2008 - 08/2006
1	Insulin Resistance 02/2022
1	Dyslipidemias (Dyslipidemia) 02/2022
1	Methylenetetrahydrofolate reductase deficiency 01/2022
1	Neurodegenerative Diseases (Neurodegenerative Disease) 12/2021
1	Myocardial Infarction 12/2021
1	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 11/2021

Drug/Important Bio-Agent (IBA)

17	AcidsIBA 12/2021 - 09/2007
14	GlycogenIBA 12/2021 - 09/2006
12	EnzymesIBA 12/2021 - 09/2007
9	GlucosidasesIBA 12/2021 - 06/2011
8	alpha-Glucosidases (Acid Maltase)IBA 01/2015 - 09/2007
7	human GAA protein (Myozyme)FDA Link 12/2021 - 09/2007
6	Biomarkers (Surrogate Marker)IBA 01/2022 - 01/2013
5	Pharmaceutical PreparationsIBA 06/2017 - 09/2007
4	DNA (Deoxyribonucleic Acid)IBA 02/2014 - 05/2006
4	Fatty Acids (Saturated Fatty Acids)IBA 10/2011 - 07/2003
3	Insulin (Novolin)FDA Link 02/2022 - 02/2009
3	Methionine (L-Methionine)FDA Link 01/2022 - 06/2005
3	Phenylalanine (L-Phenylalanine)FDA Link 01/2020 - 11/2004
3	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 01/2020 - 11/2004
3	alpha-Galactosidase (Beano)IBA 11/2016 - 10/2009
3	Immunoglobulin G (IgG)IBA 02/2015 - 09/2013
3	Intravenous Immunoglobulins (IVIG)FDA Link 02/2015 - 03/2003
3	Carnitine (L-Carnitine)FDA LinkGeneric 02/2013 - 08/2006
3	GlycosphingolipidsIBA 07/2012 - 10/2009
3	imiglucerase FDA Link 09/2010 - 09/2002
2	Glucose (Dextrose)FDA LinkGeneric 02/2022 - 02/2009
2	Neurotransmitter Agents (Neurotransmitter)IBA 01/2022 - 01/2018
2	CitrullineIBA 01/2022 - 02/2013
2	GlycosaminoglycansIBA 11/2020 - 03/2013
2	Lysergic Acid Diethylamide (LSD)IBA 01/2020 - 04/2010
2	Hemoglobins (Hemoglobin)IBA 02/2016 - 09/2002
2	3-methoxytyrosineIBA 01/2016 - 04/2014
2	N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B)IBA 01/2016 - 12/2010
2	Immunoglobulin M (IgM)IBA 02/2015 - 09/2013
2	CD40 Ligand (CD40L)IBA 02/2015 - 09/2013
2	Immunoglobulin A (IgA)IBA 02/2015 - 09/2013
2	globotriaosyl lysosphingolipidIBA 09/2013 - 07/2013
2	3-methylcrotonyl CoA carboxylase 1 deficiencyIBA 05/2013 - 10/2010
2	Systemic carnitine deficiencyIBA 02/2013 - 01/2013
2	Mitochondrial DNA (mtDNA)IBA 08/2012 - 11/2002
2	GalactosidasesIBA 07/2012 - 01/2011
2	citrinIBA 07/2011 - 08/2006
2	CreatinineIBA 01/2011 - 01/2011
2	Growth Hormone (Somatotropin)IBA 01/2011 - 02/2007
2	chitotriosidaseIBA 09/2010 - 01/2010
2	Proteins (Proteins, Gene)FDA Link 07/2008 - 08/2005
1	eliglustatIBA 06/2022
1	MagnesiumIBA 04/2022
1	Phosphoprotein Phosphatases (Phosphatases, Protein)IBA 04/2022
1	Triglycerides (Triacylglycerol)IBA 02/2022
1	HDL LipoproteinsIBA 02/2022
1	LipidsIBA 02/2022
1	HomocysteineIBA 01/2022
1	TubulinIBA 12/2021
1	nusinersenIBA 11/2021

Therapy/Procedure

20	Enzyme Replacement Therapy 06/2022 - 09/2002
13	Therapeutics 01/2022 - 03/2003
3	Drug Therapy (Chemotherapy) 07/2021 - 08/2005
3	Liver Transplantation 01/2019 - 05/2003
2	Aftercare (After-Treatment) 12/2017 - 05/2010
2	Transplantation 08/2008 - 09/2005
2	Splenectomy 08/2005 - 06/2005