Jörn Oliver Sass Selected Research

Sulfite oxidase deficiency

4/2024	Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies.
1/2012	Molybdenum cofactor deficiency: a new HPLC method for fast quantification of s-sulfocysteine in urine and serum.
8/2010	Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia.

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Jörn Oliver Sass Research Topics

Disease

6	Propionic Acidemia 01/2022 - 02/2007
6	Ketosis 01/2022 - 05/2011
5	Succinyl-CoA:3-oxoacid CoA transferase deficiency 04/2021 - 05/2011
4	Molybdenum cofactor deficiency 01/2018 - 11/2002
3	Sulfite oxidase deficiency 04/2024 - 08/2010
3	Inborn Genetic Diseases (Disease, Hereditary) 12/2023 - 06/2004
3	Inborn Errors Metabolism (Inborn Errors of Metabolism) 04/2021 - 01/2012
3	Metabolic Diseases (Metabolic Disease) 04/2021 - 03/2004
3	Canavan Disease (Leukodystrophy, Spongiform) 01/2021 - 09/2012
3	Primary hyperoxaluria type 2 02/2020 - 12/2010
2	isovaleric Acidemia 01/2023 - 12/2004
2	3-Hydroxyisobutyric aciduria 01/2022 - 05/2012
2	Methylmalonic acidemia 01/2022 - 10/2005
2	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2021 - 01/2004
2	Acidosis 10/2017 - 01/2017
2	Phenylketonurias (Phenylketonuria) 10/2017 - 05/2013
2	Atrophy 12/2014 - 01/2004
2	Seizures (Absence Seizure) 12/2014 - 08/2010
2	Disease Progression 08/2014 - 07/2006
2	Hypoglycemia (Reactive Hypoglycemia) 07/2014 - 10/2012
1	Complementation Group A Molybdenum Cofactor Deficiency 04/2024
1	Childhood Hypophosphatasia 02/2022
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2022
1	Muscular Diseases (Myopathy) 12/2021
1	Muscle Hypotonia (Hypotonia) 01/2021
1	Megalencephaly 01/2021
1	D-glycericacidemia 02/2020
1	Halitosis 01/2018
1	Neoplasms (Cancer) 01/2018
1	Cardiomyopathies (Cardiomyopathy) 12/2017
1	Proteinuria 01/2017
1	Dehydration (Water Stress) 01/2017
1	Myoclonic Epilepsies (Myoclonic Encephalopathy) 01/2017
1	Nonketotic Hyperglycinemia 01/2017
1	Familial Hypophosphatemia (Phosphate Diabetes) 01/2017
1	Albuminuria 01/2017
1	Vomiting 01/2017
1	Fanconi like syndrome 01/2017
1	Renal Glycosuria 01/2016
1	Cataract (Cataracts) 01/2016
1	Glutathione synthetase deficiency 01/2016
1	Dystonia (Limb Dystonia) 01/2016
1	Cytochrome-c Oxidase Deficiency 12/2014
1	Optic Atrophy 12/2014

Drug/Important Bio-Agent (IBA)

12	EnzymesIBA 01/2022 - 11/2002
6	Proteins (Proteins, Gene)FDA Link 01/2018 - 11/2002
5	KetonesIBA 01/2022 - 05/2011
5	TransferasesIBA 04/2021 - 05/2011
5	Coenzyme A (CoA)IBA 04/2021 - 05/2011
5	Sulfite OxidaseIBA 01/2012 - 11/2002
4	Amino Acids FDA Link 12/2023 - 05/2010
4	succinyl-coenzyme A (succinyl-CoA)IBA 04/2021 - 05/2011
4	Propionyl-Coenzyme A Carboxylase (Propionyl CoA Carboxylase)IBA 09/2014 - 02/2007
4	Xanthine DehydrogenaseIBA 12/2012 - 11/2002
3	molybdopterin (molybdenum cofactor)IBA 04/2024 - 06/2004
3	aspartoacylaseIBA 01/2021 - 09/2012
2	aminoacylase I (aminoacylase)IBA 12/2023 - 01/2016
2	Oxidoreductases (Dehydrogenase)IBA 01/2022 - 01/2018
2	Biomarkers (Surrogate Marker)IBA 01/2022 - 12/2021
2	3-hydroxyisobutyric acidIBA 01/2022 - 05/2012
2	acylcarnitineIBA 12/2021 - 10/2012
2	AcidsIBA 12/2021 - 11/2011
2	FructoseIBA 02/2020 - 12/2010
2	Serine (L-Serine)FDA Link 02/2020 - 12/2010
2	Phenylalanine (L-Phenylalanine)FDA Link 10/2017 - 05/2013
2	Lactic Acid (Lactate)FDA LinkGeneric 10/2017 - 12/2014
2	Glucose (Dextrose)FDA LinkGeneric 10/2017 - 03/2012
2	Beta ketothiolase deficiencyIBA 01/2017 - 07/2014
2	glycerate kinaseIBA 01/2017 - 12/2010
2	Leucine (L-Leucine)FDA Link 11/2013 - 12/2004
2	Isoleucine (L-Isoleucine)FDA Link 01/2008 - 01/2004
2	Aldehyde OxidaseIBA 06/2004 - 11/2002
2	Prealbumin (Transthyretin)IBA 10/2003 - 11/2002
1	nulibryIBA 04/2024
1	isovaleryl-coenzyme AIBA 01/2023
1	Isovaleryl-CoA Dehydrogenase (Isovaleryl-Coenzyme A Dehydrogenase)IBA 01/2023
1	isovaleric acidIBA 01/2023
1	N- (4'- fluorobutyrophenone)- 4- (4- chlorophenyl)pyridinium (HPP(+))IBA 02/2022
1	fibroblast growth factor 21IBA 01/2022
1	Ammonium CompoundsIBA 01/2022
1	Valine (L-Valine)FDA Link 01/2022
1	glycine acyltransferaseIBA 04/2021
1	N-acetylaspartate (N-acetyl aspartate)IBA 01/2021
1	RNA (Ribonucleic Acid)IBA 01/2019
1	ResveratrolIBA 01/2019
1	Selenium-Binding ProteinsIBA 01/2018
1	methylmercaptan (methanethiol)IBA 01/2018
1	ElectrolytesIBA 10/2017
1	Sodium Bicarbonate (Baking Soda)FDA LinkGeneric 10/2017
1	Glycine (Aminoacetic Acid)FDA LinkGeneric 01/2017
1	glyceric acidIBA 01/2017
1	glycine cleavage systemIBA 01/2017
1	Mechanistic Target of Rapamycin Complex 2IBA 01/2017
1	Mechanistic Target of Rapamycin Complex 1IBA 01/2017
1	Glutathione Synthase (Glutathione Synthetase)IBA 01/2016
1	Pyroglutamate Hydrolase (5 Oxoprolinase)IBA 01/2016
1	CreatineIBA 01/2016
1	Sodium-Glucose Transport ProteinsIBA 01/2016
1	Mitochondrial DNA (mtDNA)IBA 12/2014

Therapy/Procedure

2	Therapeutics 08/2014 - 06/2004