William Rhead Selected Research

2-Methylbutyryl-CoA Dehydrogenase Deficiency

9/2013	Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin.
2/2007	2-methylbutyryl-CoA dehydrogenase deficiency in Hmong infants identified by expanded newborn screen.

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William Rhead Research Topics

Disease

6	Inborn Urea Cycle Disorders 01/2019 - 07/2010
2	Gaucher Disease (Gaucher's Disease) 02/2016 - 03/2013
2	Fabry Disease (Fabry's Disease) 12/2013 - 05/2009
2	isovaleric Acidemia 09/2013 - 02/2007
2	2-Methylbutyryl-CoA Dehydrogenase Deficiency 09/2013 - 02/2007
1	Chronic Renal Insufficiency 12/2013
1	Hyperammonemia 06/2013
1	Glycogen Storage Disease Type II (Pompe's Disease) 01/2012
1	Multiple Acyl Coenzyme A Dehydrogenase Deficiency 12/2010
1	Muscle Weakness 12/2010
1	Proteinuria 05/2009
1	Chronic Kidney Failure (Chronic Renal Failure) 05/2009

Drug/Important Bio-Agent (IBA)

5	glycerol phenylbutyrateIBA 01/2019 - 07/2010
4	AmmoniaIBA 07/2015 - 07/2010
2	imiglucerase FDA Link 02/2016 - 03/2013
2	NitrogenIBA 09/2015 - 07/2015
2	agalsidase alfaIBA 12/2013 - 05/2009
2	Isoleucine (L-Isoleucine)FDA Link 09/2013 - 02/2007
2	Leucine (L-Leucine)FDA Link 09/2013 - 02/2007
1	Amino Acids FDA Link 01/2019
1	Proteins (Proteins, Gene)FDA Link 01/2019
1	Urea (Carbamide)FDA LinkGeneric 07/2015
1	Dietary ProteinsIBA 07/2015
1	Glutamine (L-Glutamine)FDA Link 07/2015
1	Biomarkers (Surrogate Marker)IBA 12/2013
1	globotriaosylceramide (globotriosylceramide)IBA 12/2013
1	Acetylcarnitine (Alcar)IBA 09/2013
1	Coenzyme A (CoA)IBA 09/2013
1	3-methylbutyrylcarnitineIBA 09/2013
1	propionylcarnitineIBA 09/2013
1	Oxidoreductases (Dehydrogenase)IBA 09/2013
1	acylcarnitineIBA 09/2013
1	Glucosylceramidase (Glucocerebrosidase)IBA 03/2013
1	GlucosidasesIBA 01/2012
1	AcidsIBA 01/2012
1	human GAA protein (Myozyme)FDA Link 01/2012
1	Starch (Cornstarch)IBA 12/2010
1	Carnitine (L-Carnitine)FDA LinkGeneric 12/2010
1	electron-transferring-flavoprotein dehydrogenase (ETF dehydrogenase)IBA 12/2010
1	Riboflavin (Vitamin B2)FDA LinkGeneric 12/2010
1	Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA 12/2010
1	4-phenylbutyric acid (Buphenyl)FDA Link 07/2010
1	EnzymesIBA 05/2009
1	GlycosphingolipidsIBA 05/2009
1	alpha-Galactosidase (Beano)IBA 05/2009
1	2'- deoxythymidylyl- (3'- 5')- 2'- deoxyadenosine (d(AT))IBA 05/2009

Therapy/Procedure

4	Enzyme Replacement Therapy 02/2016 - 05/2009