Susan A Berry Selected Research

Arakawa syndrome 2

1/2022

Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment.

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Susan A Berry Research Topics

Disease

11	Inborn Urea Cycle Disorders 01/2021 - 05/2007
3	Homocystinuria 01/2021 - 07/2008
2	Methylenetetrahydrofolate reductase deficiency 02/2016 - 07/2008
2	Phenylketonurias (Phenylketonuria) 02/2014 - 08/2013
2	Hyperammonemia 06/2013 - 05/2007
1	Trifunctional Protein Deficiency With Myopathy And Neuropathy 09/2022
1	Rhabdomyolysis 01/2022
1	Arakawa syndrome 2 01/2022
1	Acute Kidney Injury (Acute Renal Failure) 01/2022
1	Kidney Calculi (Kidney Stone) 01/2021
1	Methylmalonic acidemia 01/2021
1	Hyperoxaluria (Oxaluria) 01/2021
1	Primary Hyperoxaluria (Oxaluria, Primary) 01/2021
1	Chronic Kidney Failure (Chronic Renal Failure) 01/2021
1	Chronic Renal Insufficiency 01/2021
1	Primary hyperoxaluria type 1 01/2021
1	Medium chain acyl CoA dehydrogenase deficiency 01/2021
1	Uniparental Disomy 07/2020
1	Noonan Syndrome (Female Pseudo-Turner Syndrome) 12/2019
1	Neurofibromatosis 1 (Neurofibromatosis Type I) 12/2019
1	Fetal Growth Retardation (Intrauterine Growth Retardation) 01/2018
1	Paraplegia (Spastic Paraplegia) 01/2018
1	VLCAD deficiency 01/2016
1	Neoplasms (Cancer) 12/2015
1	Inborn Genetic Diseases (Disease, Hereditary) 12/2015
1	Neurilemmoma (Schwannoma) 12/2015
1	Argininosuccinic Aciduria 06/2013
1	Combined Malonic and Methylmalonic Aciduria 08/2011
1	Hepatic Encephalopathy 04/2007
1	Cardiomyopathies (Cardiomyopathy) 04/2007
1	Sudden Death 04/2007
1	Hypoglycemia (Reactive Hypoglycemia) 04/2007
1	isovaleric Acidemia 12/2004
1	2-Methylbutyryl-CoA Dehydrogenase Deficiency 07/2003

Drug/Important Bio-Agent (IBA)

9	glycerol phenylbutyrateIBA 01/2021 - 07/2010
5	AmmoniaIBA 07/2015 - 07/2010
3	Fatty Acids (Saturated Fatty Acids)IBA 09/2022 - 04/2007
3	HomocysteineIBA 01/2022 - 07/2008
3	Amino Acids FDA Link 01/2019 - 11/2017
2	Methionine (L-Methionine)FDA Link 01/2021 - 02/2016
2	Proteins (Proteins, Gene)FDA Link 01/2019 - 11/2017
2	Dietary ProteinsIBA 11/2018 - 07/2015
2	NitrogenIBA 09/2015 - 07/2015
2	Phenylalanine (L-Phenylalanine)FDA Link 02/2014 - 08/2013
2	4-phenylbutyric acid (Buphenyl)FDA Link 06/2013 - 07/2010
1	Mitochondrial Trifunctional ProteinIBA 09/2022
1	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 01/2021
1	Calcium OxalateIBA 01/2021
1	FatsIBA 01/2021
1	Congenital disorder of glycosylation type 1AIBA 07/2020
1	Mitogen-Activated Protein KinasesIBA 12/2019
1	Adenosine Monophosphate (AMP)IBA 01/2018
1	FucoseIBA 01/2018
1	FucosyltransferasesIBA 01/2018
1	Glycoproteins (Glycoprotein)IBA 01/2018
1	MonosaccharidesIBA 01/2018
1	Long-Chain Acyl-CoA Dehydrogenase (Long-Chain-Acyl-Coenzyme A Dehydrogenase)IBA 01/2016
1	Sucrose (Saccharose)IBA 12/2015
1	Glutamine (L-Glutamine)FDA Link 07/2015
1	Urea (Carbamide)FDA LinkGeneric 07/2015
1	sapropterin (tetrahydrobiopterin)FDA Link 02/2014
1	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 02/2014
1	Argininosuccinic AcidIBA 06/2013
1	malonyl-CoA synthetaseIBA 08/2011
1	methylmalonyl-coenzyme A (methylmalonyl CoA)IBA 08/2011
1	Methylenetetrahydrofolate Reductase (NADPH2) (Methylenetetrahydrofolate Reductase)IBA 07/2008
1	Folic Acid (Vitamin M)FDA LinkGeneric 07/2008
1	Sodium Benzoate FDA Link 05/2007
1	Ammonium CompoundsIBA 05/2007
1	phenylacetic acid (phenylacetate)FDA Link 05/2007
1	Arginine (L-Arginine)FDA Link 05/2007
1	ammonul FDA Link 05/2007
1	Benzoates (Benzoate)IBA 05/2007
1	Systemic carnitine deficiencyIBA 04/2007
1	Leucine (L-Leucine)FDA Link 12/2004
1	Isoleucine (L-Isoleucine)FDA Link 07/2003
1	2-methylacyl-CoA dehydrogenaseIBA 07/2003

Therapy/Procedure

3	Therapeutics 01/2021 - 05/2007
2	Renal Dialysis (Hemodialysis) 01/2022 - 05/2007
1	Liver Transplantation 01/2021
1	Diet Therapy (Therapy, Diet) 01/2021
1	Drug Therapy (Chemotherapy) 02/2014
1	Aftercare (After-Treatment) 05/2007