Wuh-Liang Hwu Selected Research

VLCAD deficiency

1/2013	Fatty Acid oxidation disorders in a chinese population in taiwan.
8/2012	A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child.

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Wuh-Liang Hwu Research Topics

Disease

33	Glycogen Storage Disease Type II (Pompe's Disease) 01/2024 - 03/2004
10	Fabry Disease (Fabry's Disease) 10/2023 - 10/2009
10	Mucopolysaccharidoses 11/2020 - 12/2010
9	Gaucher Disease (Gaucher's Disease) 04/2024 - 09/2002
7	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 01/2023 - 04/2007
6	Inborn Genetic Diseases (Disease, Hereditary) 01/2024 - 06/2004
6	Aromatic amino acid decarboxylase deficiency 09/2023 - 12/2011
5	Lysosomal Storage Diseases (Lysosomal Storage Disease) 09/2023 - 05/2006
5	Methylmalonic acidemia 01/2019 - 05/2003
5	Cardiomyopathies (Cardiomyopathy) 06/2018 - 09/2007
4	Phenylketonurias (Phenylketonuria) 11/2023 - 11/2004
4	Inborn Errors Metabolism (Inborn Errors of Metabolism) 02/2023 - 09/2005
4	Muscle Hypotonia (Hypotonia) 04/2022 - 06/2011
4	Mucopolysaccharidosis IV (Morquio Syndrome) 01/2020 - 03/2013
4	Mucopolysaccharidosis VI (Syndrome, Maroteaux-Lamy) 01/2016 - 05/2008
4	Hypermethioninemia 08/2015 - 06/2005
3	Seizures (Absence Seizure) 02/2024 - 06/2002
3	Muscular Diseases (Myopathy) 01/2023 - 01/2014
3	Adult-onset citrullinemia type 2 01/2022 - 08/2006
3	Metabolic Diseases (Metabolic Disease) 11/2020 - 07/2003
3	Maple Syrup Urine Disease 01/2014 - 07/2003
3	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 01/2011 - 08/2008
3	Citrullinemia 10/2010 - 11/2003
3	Neonatal-onset citrullinemia type 2 08/2008 - 11/2003
2	Gliosis 02/2024 - 06/2018
2	Mucolipidoses (Sialidosis) 02/2024 - 03/2013
2	Rare Diseases (Rare Disease) 01/2024 - 12/2023
2	6-pyruvoyl-tetrahydropterin synthase deficiency 11/2023 - 10/2010
2	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 10/2023 - 01/2014
2	Biliary Atresia 01/2023 - 08/2008
2	Osteogenesis Imperfecta (Lobstein Disease) 01/2023 - 08/2014
2	Neoplasms (Cancer) 01/2019 - 10/2017
2	Niemann-Pick Diseases (Niemann Pick Disease) 01/2019 - 01/2010
2	Down Syndrome (Down's Syndrome) 07/2017 - 01/2016
2	Alzheimer Disease (Alzheimer's Disease) 07/2017 - 01/2016
2	Cardiomegaly (Heart Hypertrophy) 04/2016 - 08/2009
2	Inborn Urea Cycle Disorders 01/2014 - 12/2003
2	Glycogen Storage Disease (Glycogenosis) 02/2013 - 06/2009
2	VLCAD deficiency 01/2013 - 08/2012
2	Medium chain acyl CoA dehydrogenase deficiency 01/2013 - 10/2010
2	Psoriasis (Pustulosis Palmaris et Plantaris) 05/2012 - 07/2008
2	Infections 06/2009 - 09/2005
2	Hyperammonemia 04/2009 - 05/2005
2	Obesity 02/2009 - 02/2007
2	Neonatal hemochromatosis 08/2008 - 11/2003
2	Dopa-responsive Dystonia 03/2008 - 06/2004
2	Parkinson Disease (Parkinson's Disease) 06/2007 - 07/2002

Drug/Important Bio-Agent (IBA)

19	AcidsIBA 01/2024 - 03/2004
14	GlycogenIBA 11/2020 - 03/2004
10	EnzymesIBA 01/2023 - 09/2007
9	alpha-Glucosidases (Acid Maltase)IBA 01/2023 - 03/2004
8	GlucosidasesIBA 01/2024 - 06/2011
7	Proteins (Proteins, Gene)FDA Link 04/2024 - 06/2004
7	Biomarkers (Surrogate Marker)IBA 01/2022 - 12/2010
6	human GAA protein (Myozyme)FDA Link 06/2020 - 09/2007
5	DNA (Deoxyribonucleic Acid)IBA 07/2017 - 10/2006
4	Neurotransmitter Agents (Neurotransmitter)IBA 01/2024 - 03/2008
4	Aromatic-L-Amino-Acid DecarboxylasesIBA 01/2024 - 01/2018
4	GalactosidasesIBA 10/2023 - 12/2010
4	Mitochondrial DNA (mtDNA)IBA 01/2023 - 11/2002
4	GlycosaminoglycansIBA 11/2020 - 03/2013
4	Carnitine (L-Carnitine)FDA LinkGeneric 02/2013 - 08/2006
4	GlycosphingolipidsIBA 07/2012 - 10/2009
4	Fatty Acids (Saturated Fatty Acids)IBA 10/2010 - 07/2003
3	3-methoxytyrosineIBA 09/2023 - 04/2014
3	CitrullineIBA 01/2022 - 10/2006
3	Phenylalanine (L-Phenylalanine)FDA Link 01/2020 - 11/2004
3	Insulin (Novolin)FDA Link 01/2019 - 02/2009
3	alpha-Galactosidase (Beano)IBA 11/2016 - 10/2009
3	N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B)IBA 01/2016 - 08/2008
3	globotriaosyl lysosphingolipidIBA 09/2013 - 12/2010
3	imiglucerase FDA Link 09/2010 - 09/2002
2	ProlactinIBA 11/2023 - 01/2011
2	6-pyruvoyltetrahydropterin synthase (PTPS)IBA 11/2023 - 10/2010
2	Glucosylceramidase (Glucocerebrosidase)IBA 01/2023 - 12/2008
2	nusinersenIBA 01/2023 - 11/2019
2	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 01/2020 - 11/2004
2	Lysergic Acid Diethylamide (LSD)IBA 01/2020 - 04/2010
2	coenzyme Q10 (CoQ10)IBA 01/2019 - 08/2008
2	Hemoglobins (Hemoglobin)IBA 02/2016 - 09/2002
2	Methionine (L-Methionine)FDA Link 08/2015 - 06/2005
2	AmmoniaIBA 01/2014 - 10/2006
2	3-methylcrotonyl CoA carboxylase 1 deficiencyIBA 05/2013 - 10/2010
2	Systemic carnitine deficiencyIBA 02/2013 - 01/2013
2	Messenger RNA (mRNA)IBA 07/2012 - 02/2009
2	CreatinineIBA 01/2011 - 01/2011
2	Growth Hormone (Somatotropin)IBA 01/2011 - 02/2007
2	globotriaosylceramide (globotriosylceramide)IBA 01/2011 - 12/2010
2	chitotriosidaseIBA 09/2010 - 01/2010
2	Glucose (Dextrose)FDA LinkGeneric 02/2009 - 07/2003
2	Alanine Transaminase (SGPT)IBA 08/2008 - 05/2006
2	Thiamine (Aneurin)FDA Link 08/2008 - 07/2003
2	Aspartate Aminotransferases (Aspartate Transaminase)IBA 08/2008 - 05/2006
2	GTP Cyclohydrolase (GTP Cyclohydrolase I)IBA 03/2008 - 06/2004

Therapy/Procedure

25	Enzyme Replacement Therapy 01/2024 - 09/2002
14	Therapeutics 01/2024 - 03/2003
4	Bone Marrow Transplantation (Transplantation, Bone Marrow) 09/2008 - 07/2003
3	Liver Transplantation 01/2019 - 05/2003
3	Transplantation 08/2008 - 09/2004
2	Aftercare (After-Treatment) 12/2017 - 05/2010