James Pitt Selected Research

S-(2-carboxypropyl)cysteine

11/2014

ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.

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James Pitt Research Topics

Disease

2	Seizures (Absence Seizure) 03/2021 - 12/2010
2	Hyperammonemia 01/2017 - 03/2014
2	Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 08/2015 - 11/2014
1	Imprinting Disorders 01/2022
1	Epilepsy (Aura) 03/2021
1	Lathosterolosis 11/2020
1	Hypercholesterolemia 11/2020
1	Liver Diseases (Liver Disease) 11/2020
1	Sitosterolemia 11/2020
1	Xanthomatosis (Xanthoma) 11/2020
1	Liver Cirrhosis (Hepatic Cirrhosis) 11/2020
1	Femoral Hernia 04/2020
1	Anastomotic Leak 04/2020
1	Colonic Neoplasms (Colon Cancer) 04/2020
1	Obesity 01/2020
1	Morbid Obesity 01/2020
1	Intestinal Failure 10/2019
1	Smith-Lemli-Opitz Syndrome 01/2018
1	Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome) 01/2018
1	Atrophy 01/2018
1	Syndactyly (Polysyndactyly) 01/2018
1	Sensorineural Hearing Loss 01/2018
1	Optic Nerve Diseases (Optic Neuropathy) 01/2018
1	Intellectual Disability (Idiocy) 01/2017
1	Neutropenia 01/2017
1	Megaloblastic Anemia 01/2017
1	Failure to Thrive 01/2017
1	Leigh Disease (Leigh's Disease) 11/2014
1	Pyruvate Carboxylase Deficiency Disease 03/2014
1	Coma (Comas) 09/2013
1	Lysinuric Protein Intolerance 09/2013
1	Neuroblastoma 01/2012
1	Hyperglycemia 01/2012
1	Hypophosphatasia 12/2010
1	Brain Diseases (Brain Disorder) 12/2010
1	Body Weight (Weight, Body) 05/2010
1	Molybdenum cofactor deficiency 05/2010
1	Type I Xanthinuria 05/2010
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 01/2010
1	Phenylketonurias (Phenylketonuria) 09/2008
1	Cystic Fibrosis (Mucoviscidosis) 09/2008
1	Congenital Hypothyroidism (Cretinism) 09/2008
1	Medium chain acyl CoA dehydrogenase deficiency 09/2008
1	Methylmalonic acidemia 12/2003

Drug/Important Bio-Agent (IBA)

3	CholesterolIBA 11/2020 - 11/2002
2	Pyridoxine (Pyridoxin)FDA LinkGeneric 03/2021 - 12/2010
2	SterolsIBA 11/2020 - 11/2020
2	Valine (L-Valine)FDA Link 08/2015 - 11/2014
2	EnzymesIBA 05/2010 - 12/2003
2	AcidsIBA 01/2010 - 12/2003
1	snRNP Core ProteinsIBA 01/2022
1	Biomarkers (Surrogate Marker)IBA 03/2021
1	VitaminsIBA 03/2021
1	Simvastatin (Zocor)FDA LinkGeneric 11/2020
1	oxidized low density lipoproteinIBA 11/2020
1	lathosterolIBA 11/2020
1	gamma-sitosterol (beta-sitosterol)IBA 11/2020
1	LDL CholesterolIBA 11/2020
1	Uncoupling Protein 1IBA 01/2020
1	Estrogens (Estrogen)FDA Link 01/2020
1	Estrogen ReceptorsIBA 01/2020
1	Riboflavin (Vitamin B2)FDA LinkGeneric 01/2018
1	T-Cell Antigen Receptors (T-Cell Receptor)IBA 01/2018
1	pyrimidineIBA 01/2017
1	Amino Acids FDA Link 01/2017
1	UridineIBA 01/2017
1	Oroticaciduria 1IBA 01/2017
1	3-hydroxyisobutyryl-CoA hydrolaseIBA 11/2014
1	Enoyl-CoA HydrataseIBA 11/2014
1	S-(2-carboxypropyl)cysteineIBA 11/2014
1	Carbonic Anhydrases (Carbonic Anhydrase)IBA 03/2014
1	carglumic acid FDA Link 03/2014
1	Urea (Carbamide)FDA LinkGeneric 03/2014
1	Proteins (Proteins, Gene)FDA Link 09/2013
1	homocitrullineIBA 09/2013
1	Aquaporins (Water Channels)IBA 01/2012
1	Taurine FDA Link 01/2012
1	Alkaline PhosphataseIBA 12/2010
1	Neurotransmitter Agents (Neurotransmitter)IBA 12/2010
1	Uric Acid (Urate)IBA 05/2010
1	ThiosulfatesIBA 05/2010
1	Sulfite OxidaseIBA 05/2010
1	XanthineIBA 05/2010
1	nulibryIBA 05/2010
1	SulfitesIBA 05/2010
1	MolybdenumIBA 05/2010
1	S-sulphocysteineIBA 05/2010
1	Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA 09/2008
1	Methylmalonyl-CoA MutaseIBA 12/2003
1	Coenzyme A (CoA)IBA 12/2003

Therapy/Procedure

1	Appendectomy 04/2020
1	Length of Stay 04/2020
1	Colectomy 04/2020
1	Home Parenteral Nutrition 10/2019
1	Fluid Therapy (Oral Rehydration Therapy) 01/2012
1	Therapeutics 05/2010
1	Intravenous Administration 05/2010
1	Aftercare (After-Treatment) 02/2003
1	Operative Surgical Procedures 02/2003
1	Restorative Proctocolectomy 02/2003