Dietrich Matern Selected Research

2-methylacyl-CoA dehydrogenase

8/2010	Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening.
2/2007	Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.
7/2003	Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.

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Dietrich Matern Research Topics

Disease

7	Globoid Cell Leukodystrophy (Krabbe Disease) 05/2021 - 09/2015
7	Cardiomyopathies (Cardiomyopathy) 07/2013 - 02/2003
7	Hypoglycemia (Reactive Hypoglycemia) 07/2011 - 03/2002
5	Inborn Errors Metabolism (Inborn Errors of Metabolism) 12/2018 - 02/2002
5	Short chain Acyl CoA dehydrogenase deficiency 10/2010 - 04/2003
5	VLCAD deficiency 10/2010 - 08/2006
4	Inflammation (Inflammations) 01/2018 - 12/2007
4	Trifunctional Protein Deficiency With Myopathy And Neuropathy 11/2013 - 06/2003
4	Congenital Adrenal Hyperplasia (Hyperplasia, Congenital Adrenal) 06/2012 - 03/2004
4	Medium chain acyl CoA dehydrogenase deficiency 10/2010 - 05/2005
3	Tyrosinemias (Tyrosinemia) 01/2020 - 05/2006
3	Inborn Genetic Diseases (Disease, Hereditary) 01/2018 - 01/2002
3	Rhabdomyolysis 11/2017 - 08/2006
3	Propionic Acidemia 09/2014 - 01/2012
3	Atrophy 07/2013 - 12/2007
3	Muscular Diseases (Myopathy) 03/2009 - 02/2003
2	Metabolic Diseases (Metabolic Disease) 12/2018 - 12/2004
2	Autistic Disorder (Autism) 06/2014 - 10/2012
2	Insulin Resistance 11/2013 - 05/2005
2	Crohn Disease (Crohn's Disease) 07/2013 - 12/2007
2	Intellectual Disability (Idiocy) 10/2012 - 04/2011
2	2-Methylbutyryl-CoA Dehydrogenase Deficiency 08/2010 - 07/2003
2	Sudden Death 03/2009 - 04/2007
1	Neurodegenerative Diseases (Neurodegenerative Disease) 05/2021
1	Glycogen Storage Disease XIV 01/2021
1	Agammaglobulinemia (Hypogammaglobulinemia) 01/2021
1	Heart Arrest (Cardiac Arrest) 01/2021
1	Rare Diseases (Rare Disease) 06/2020
1	due to Saposin A Deficiency Atypical Krabbe Disease 01/2020
1	Mucopolysaccharidosis I (Hurler Syndrome) 01/2020
1	Mucolipidoses (Sialidosis) 01/2020
1	Metachromatic Leukodystrophy due to Saposin B Deficiency 01/2020
1	Lysosomal Storage Diseases (Lysosomal Storage Disease) 01/2020
1	Fabry Disease (Fabry's Disease) 01/2019
1	Obesity 01/2018
1	Hyperoxaluria (Oxaluria) 01/2018
1	Kidney Calculi (Kidney Stone) 01/2018
1	Glycogen Storage Disease Type II (Pompe's Disease) 01/2018
1	Glutamate formiminotransferase deficiency 11/2017
1	Lymphopenia (Lymphocytopenia) 01/2017
1	Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome) 01/2017
1	Methylenetetrahydrofolate reductase deficiency 02/2016
1	Disease Progression 09/2015
1	Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked) 01/2015

Drug/Important Bio-Agent (IBA)

15	Fatty Acids (Saturated Fatty Acids)IBA 11/2013 - 01/2002
7	EnzymesIBA 05/2021 - 10/2002
6	Psychosine (Galactosylsphingosine)IBA 05/2021 - 09/2015
6	Biomarkers (Surrogate Marker)IBA 06/2020 - 09/2014
5	GalactosylceramidaseIBA 05/2021 - 09/2015
5	Carnitine (L-Carnitine)FDA LinkGeneric 07/2013 - 04/2004
5	acylcarnitineIBA 01/2010 - 06/2003
5	Proteins (Proteins, Gene)FDA Link 10/2009 - 04/2003
4	Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA 11/2013 - 05/2005
4	Long-Chain Acyl-CoA Dehydrogenase (Long-Chain-Acyl-Coenzyme A Dehydrogenase)IBA 10/2010 - 08/2006
4	Oxidoreductases (Dehydrogenase)IBA 10/2010 - 05/2005
3	Amino Acids FDA Link 12/2018 - 08/2004
3	SteroidsIBA 01/2011 - 03/2004
3	Coenzyme A (CoA)IBA 10/2010 - 05/2005
3	2-methylacyl-CoA dehydrogenaseIBA 08/2010 - 07/2003
3	Butyryl-CoA Dehydrogenase (Short-Chain Acyl-CoA Dehydrogenase)IBA 08/2008 - 04/2003
2	succinylacetoneIBA 09/2014 - 05/2006
2	LipidsIBA 11/2013 - 02/2008
2	Insulin (Novolin)FDA Link 11/2013 - 05/2005
2	Glucose (Dextrose)FDA LinkGeneric 11/2013 - 05/2005
2	AcidsIBA 03/2013 - 06/2003
2	Tyrosine (L-Tyrosine)FDA Link 01/2013 - 05/2006
2	17-alpha-Hydroxyprogesterone (17 Hydroxyprogesterone)IBA 06/2012 - 08/2004
2	Hydrocortisone (Cortisol)FDA LinkGeneric 01/2011 - 08/2004
2	Acyl Coenzyme A (Acyl CoA)IBA 12/2010 - 10/2008
2	Systemic carnitine deficiencyIBA 10/2010 - 04/2007
2	Isoleucine (L-Isoleucine)FDA Link 03/2008 - 07/2003
2	Leucine (L-Leucine)FDA Link 03/2008 - 12/2004
2	Valine (L-Valine)FDA Link 03/2008 - 02/2007
2	Glucose-6-Phosphatase (Glucose 6 Phosphatase)IBA 10/2002 - 03/2002
1	MitogensIBA 01/2021
1	AntigensIBA 01/2021
1	VaccinesIBA 01/2021
1	GlycogenIBA 01/2021
1	GlycosaminoglycansIBA 01/2020
1	Peptides (Polypeptides)IBA 01/2020
1	Sulfoglycosphingolipids (Sulfatides)IBA 01/2020
1	nitisinone (Orfadin)FDA Link 01/2020
1	SaposinsIBA 01/2020
1	GalactosidasesIBA 01/2019
1	Calcium OxalateIBA 01/2018
1	CytokinesIBA 01/2018
1	OxalatesIBA 01/2018
1	Folic Acid (Vitamin M)FDA LinkGeneric 11/2017
1	Formiminoglutamic Acid (FIGLU)IBA 11/2017
1	formiminotetrahydrofolate cyclodeaminaseIBA 11/2017
1	Histidine (L-Histidine)FDA Link 11/2017
1	Phosphocreatine (Neoton)IBA 11/2017
1	Methionine (L-Methionine)FDA Link 02/2016
1	Lysophosphatidylcholines (Lysophosphatidylcholine)IBA 01/2015

Therapy/Procedure

8	Therapeutics 01/2020 - 03/2002
3	Hematopoietic Stem Cell Transplantation 05/2021 - 01/2015
2	Liver Transplantation 01/2012 - 04/2005
1	Transplantation 01/2018
1	Stem Cell Transplantation 01/2018
1	Cell Transplantation 01/2017