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Wuh-Liang Hwu Selected Research

3-methoxytyrosine

1/20163-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency.
4/2014Diagnosis of aromatic L-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spots.

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Wuh-Liang Hwu Research Topics

Disease

31Glycogen Storage Disease Type II (Pompe's Disease)
01/2022 - 03/2004
10Mucopolysaccharidoses
11/2020 - 12/2010
9Fabry Disease (Fabry's Disease)
01/2020 - 10/2009
7Gaucher Disease (Gaucher's Disease)
06/2022 - 09/2002
6Spinal Muscular Atrophy (Progressive Muscular Atrophy)
11/2019 - 04/2007
5Aromatic amino acid decarboxylase deficiency
01/2022 - 12/2011
5Methylmalonic acidemia
01/2019 - 05/2003
5Cardiomyopathies (Cardiomyopathy)
06/2018 - 09/2007
4Muscle Hypotonia (Hypotonia)
04/2022 - 06/2011
4Mucopolysaccharidosis IV (Morquio Syndrome)
01/2020 - 03/2013
4Lysosomal Storage Diseases (Lysosomal Storage Disease)
01/2019 - 05/2006
4Mucopolysaccharidosis VI (Syndrome, Maroteaux-Lamy)
01/2016 - 05/2008
4Hypermethioninemia
08/2015 - 06/2005
3Adult-onset citrullinemia type 2
01/2022 - 08/2006
3Metabolic Diseases (Metabolic Disease)
11/2020 - 07/2003
3Phenylketonurias (Phenylketonuria)
01/2020 - 11/2004
3Inborn Genetic Diseases (Disease, Hereditary)
12/2016 - 06/2004
3Inborn Errors Metabolism (Inborn Errors of Metabolism)
01/2014 - 09/2005
3Maple Syrup Urine Disease
01/2014 - 07/2003
3Dilated Cardiomyopathy (Cardiomyopathy, Congestive)
01/2011 - 08/2008
3Citrullinemia
10/2010 - 11/2003
3Neonatal-onset citrullinemia type 2
08/2008 - 11/2003
2Neoplasms (Cancer)
01/2019 - 10/2017
2Niemann-Pick Diseases (Niemann Pick Disease)
01/2019 - 01/2010
2Alzheimer Disease (Alzheimer's Disease)
07/2017 - 01/2016
2Down Syndrome (Down's Syndrome)
07/2017 - 01/2016
2Muscular Diseases (Myopathy)
06/2017 - 01/2014
2Tachycardia (Tachyarrhythmias)
06/2017 - 05/2005
2Cardiomegaly (Heart Hypertrophy)
04/2016 - 08/2009
2Inborn Urea Cycle Disorders
01/2014 - 12/2003
2Glycogen Storage Disease (Glycogenosis)
02/2013 - 06/2009
2VLCAD deficiency
01/2013 - 08/2012
2Medium chain acyl CoA dehydrogenase deficiency
01/2013 - 10/2010
2Psoriasis (Pustulosis Palmaris et Plantaris)
05/2012 - 07/2008
2Seizures (Absence Seizure)
07/2009 - 06/2002
2Infections
06/2009 - 09/2005
2Hyperammonemia
04/2009 - 05/2005
2Obesity
02/2009 - 02/2007
2Neonatal hemochromatosis
08/2008 - 11/2003
2Dopa-responsive Dystonia
03/2008 - 06/2004
2Parkinson Disease (Parkinson's Disease)
06/2007 - 07/2002
2Ornithine Carbamoyltransferase Deficiency Disease
09/2005 - 12/2003
2Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked)
09/2004 - 07/2003
1Lymphadenopathy
06/2022
1Neurodegenerative Diseases (Neurodegenerative Disease)
12/2021

Drug/Important Bio-Agent (IBA)

16AcidsIBA
01/2019 - 03/2004
14GlycogenIBA
11/2020 - 03/2004
9EnzymesIBA
12/2018 - 09/2007
8alpha-Glucosidases (Acid Maltase)IBA
01/2015 - 03/2004
7Biomarkers (Surrogate Marker)IBA
01/2022 - 12/2010
7GlucosidasesIBA
06/2018 - 06/2011
6human GAA protein (Myozyme)FDA Link
06/2020 - 09/2007
5DNA (Deoxyribonucleic Acid)IBA
07/2017 - 10/2006
5Pharmaceutical PreparationsIBA
06/2017 - 09/2007
5Proteins (Proteins, Gene)FDA Link
02/2016 - 06/2004
4GlycosaminoglycansIBA
11/2020 - 03/2013
4Carnitine (L-Carnitine)FDA LinkGeneric
02/2013 - 08/2006
4GlycosphingolipidsIBA
07/2012 - 10/2009
4Fatty Acids (Saturated Fatty Acids)IBA
10/2010 - 07/2003
3Neurotransmitter Agents (Neurotransmitter)IBA
01/2022 - 03/2008
3CitrullineIBA
01/2022 - 10/2006
3Phenylalanine (L-Phenylalanine)FDA Link
01/2020 - 11/2004
3Insulin (Novolin)FDA Link
01/2019 - 02/2009
3alpha-Galactosidase (Beano)IBA
11/2016 - 10/2009
3N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B)IBA
01/2016 - 08/2008
3globotriaosyl lysosphingolipidIBA
09/2013 - 12/2010
3Mitochondrial DNA (mtDNA)IBA
08/2012 - 11/2002
3GalactosidasesIBA
07/2012 - 12/2010
3imigluceraseFDA Link
09/2010 - 09/2002
2Lysergic Acid Diethylamide (LSD)IBA
01/2020 - 04/2010
2Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA
01/2020 - 11/2004
2coenzyme Q10 (CoQ10)IBA
01/2019 - 08/2008
2Hemoglobins (Hemoglobin)IBA
02/2016 - 09/2002
23-methoxytyrosineIBA
01/2016 - 04/2014
2Methionine (L-Methionine)FDA Link
08/2015 - 06/2005
2AmmoniaIBA
01/2014 - 10/2006
23-methylcrotonyl CoA carboxylase 1 deficiencyIBA
05/2013 - 10/2010
2Systemic carnitine deficiencyIBA
02/2013 - 01/2013
2Messenger RNA (mRNA)IBA
07/2012 - 02/2009
2Growth Hormone (Somatotropin)IBA
01/2011 - 02/2007
2CreatinineIBA
01/2011 - 01/2011
2globotriaosylceramide (globotriosylceramide)IBA
01/2011 - 12/2010
2chitotriosidaseIBA
09/2010 - 01/2010
2Glucose (Dextrose)FDA LinkGeneric
02/2009 - 07/2003
2Alanine Transaminase (SGPT)IBA
08/2008 - 05/2006
2Thiamine (Aneurin)FDA Link
08/2008 - 07/2003
2Aspartate Aminotransferases (Aspartate Transaminase)IBA
08/2008 - 05/2006
2GTP Cyclohydrolase (GTP Cyclohydrolase I)IBA
03/2008 - 06/2004
2citrinIBA
08/2006 - 11/2003
2Branched-Chain Amino AcidsIBA
07/2003 - 05/2003
1eliglustatIBA
06/2022
1Phosphoprotein Phosphatases (Phosphatases, Protein)IBA
04/2022
1MagnesiumIBA
04/2022
1TubulinIBA
12/2021

Therapy/Procedure

22Enzyme Replacement Therapy
06/2022 - 09/2002
12Therapeutics
06/2020 - 03/2003
4Bone Marrow Transplantation (Transplantation, Bone Marrow)
09/2008 - 07/2003
3Liver Transplantation
01/2019 - 05/2003
3Transplantation
08/2008 - 09/2004
2Aftercare (After-Treatment)
12/2017 - 05/2010