Linda De Meirleir Selected Research

Pyruvate Carboxylase Deficiency Disease

1/2013	Disorders of pyruvate metabolism.
12/2002	Defects of pyruvate metabolism and the Krebs cycle.

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Linda De Meirleir Research Topics

Disease

3	Disease Progression 04/2013 - 06/2007
3	Pyruvate Dehydrogenase Complex Deficiency Disease 01/2013 - 12/2002
2	Leigh Disease (Leigh's Disease) 01/2018 - 11/2009
2	Cardiomyopathies (Cardiomyopathy) 01/2018 - 01/2015
2	Ataxia (Dyssynergia) 01/2018 - 11/2009
2	Brain Diseases (Brain Disorder) 01/2016 - 12/2014
2	Hypoglycemia (Reactive Hypoglycemia) 01/2015 - 09/2012
2	Mitochondrial Diseases (Mitochondrial Disease) 02/2014 - 01/2004
2	Pyruvate Carboxylase Deficiency Disease 01/2013 - 12/2002
2	Cerebral Palsy (Spastic Diplegia) 01/2012 - 01/2010
2	Mucopolysaccharidosis II (Hunter Syndrome) 11/2011 - 03/2008
1	Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis) 01/2019
1	Allan-Herndon-Dudley syndrome 01/2019
1	Sepsis (Septicemia) 01/2019
1	Lysosomal Storage Diseases (Lysosomal Storage Disease) 01/2019
1	Thyrotoxicosis 01/2019
1	Mucopolysaccharidosis I (Hurler Syndrome) 12/2018
1	alpha-Mannosidosis 11/2018
1	Ophthalmoplegia (External Ophthalmoplegia) 01/2018
1	Sialorrhea 12/2017
1	Nonketotic Hyperglycinemia 06/2017
1	Methylmalonic acidemia 06/2017
1	Homocystinuria 06/2017
1	Glycogen Storage Disease XIV 12/2016
1	Glycogen Storage Disease (Glycogenosis) 12/2016
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 12/2016
1	Hepatic Encephalopathy 01/2015
1	Medium chain acyl CoA dehydrogenase deficiency 01/2015
1	Heart Failure 01/2015
1	VLCAD deficiency 01/2015
1	Respiratory Alkalosis 12/2014
1	Failure to Thrive 04/2014
1	Chorea (Rheumatic Chorea) 04/2014
1	Benign Neonatal Epilepsy (Benign Familial Neonatal Convulsions) 04/2014
1	Mitochondrial Myopathies (Mitochondrial Myopathy) 02/2014
1	Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy) 02/2014
1	Starvation 02/2014
1	Nephrotic Syndrome (Syndrome, Nephrotic) 11/2013
1	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 11/2013
1	Focal Segmental Glomerulosclerosis (Glomerulosclerosis, Focal) 11/2013
1	Myoclonic Epilepsies (Myoclonic Encephalopathy) 11/2013
1	Gaucher Disease (Gaucher's Disease) 04/2013
1	Demyelinating Diseases (Demyelinating Disease) 01/2013
1	Hepatic Insufficiency 09/2012
1	Fibrosis (Cirrhosis) 09/2012
1	Liver Failure 01/2011
1	Muscle Hypotonia (Hypotonia) 01/2011
1	Pontocerebellar Hypoplasia Type 1 01/2011
1	Pontocerebellar Hypoplasia Type 6 01/2011
1	Pontocerebellar Hypoplasia 01/2011
1	Motor Disorders 01/2010
1	Retinitis Pigmentosa (Pigmentary Retinopathy) 11/2009

Drug/Important Bio-Agent (IBA)

9	EnzymesIBA 01/2019 - 07/2003
6	Mitochondrial DNA (mtDNA)IBA 01/2018 - 01/2004
4	Lactic Acid (Lactate)FDA LinkGeneric 12/2014 - 02/2005
4	Pyruvic Acid (Pyruvate)IBA 01/2013 - 12/2002
3	Glucose (Dextrose)FDA LinkGeneric 12/2016 - 09/2012
2	Oxidoreductases (Dehydrogenase)IBA 01/2013 - 02/2005
1	3,3',5-triiodothyroacetic acid (Triac)IBA 01/2019
1	Thyroid HormonesIBA 01/2019
1	Lysergic Acid Diethylamide (LSD)IBA 01/2019
1	alpha-Mannosidase (LAMAN)IBA 11/2018
1	Mitochondrial Proton-Translocating ATPases (Mitochondrial ATP Synthase)IBA 01/2018
1	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 06/2017
1	Methylmalonic AcidIBA 06/2017
1	Glycine (Aminoacetic Acid)FDA LinkGeneric 06/2017
1	PhosphoglucomutaseIBA 12/2016
1	Insulin-Like Growth Factor I (IGF-1)IBA 12/2016
1	N-Methyl-D-Aspartate Receptors (NMDA Receptors)IBA 01/2016
1	acylcarnitineIBA 01/2015
1	Long-Chain Acyl-CoA Dehydrogenase (Long-Chain-Acyl-Coenzyme A Dehydrogenase)IBA 01/2015
1	Fatty Acids (Saturated Fatty Acids)IBA 01/2015
1	KetonesIBA 12/2014
1	AmmoniaIBA 12/2014
1	human PRRT2 proteinIBA 04/2014
1	GlycogenIBA 02/2014
1	Biomarkers (Surrogate Marker)IBA 02/2014
1	thymidine kinase 2IBA 02/2014
1	Growth Differentiation Factor 15IBA 02/2014
1	TransferasesIBA 11/2013
1	coenzyme Q10 (CoQ10)IBA 11/2013
1	Glucosylceramidase (Glucocerebrosidase)IBA 04/2013
1	Glucagon (Glukagon)FDA Link 09/2012
1	Triglycerides (Triacylglycerol)IBA 09/2012
1	splicing endonucleaseIBA 01/2011
1	Ligases (Synthetase)IBA 01/2011
1	Transfer RNA (tRNA)IBA 01/2011
1	DNA (Deoxyribonucleic Acid)IBA 01/2011
1	Oligoclonal BandsIBA 11/2009
1	GlycosaminoglycansIBA 03/2008
1	N-acetylglucosamine-6-sulfataseIBA 11/2007
1	Heparitin Sulfate (Heparan Sulfate)IBA 11/2007

Therapy/Procedure

2	Enzyme Replacement Therapy 04/2013 - 03/2008
2	Foot Orthoses 01/2012 - 01/2010
1	Therapeutics 12/2018
1	Cochlear Implants (Cochlear Implant) 12/2017
1	Hearing Aids (Hearing Aid) 12/2017
1	Withholding Treatment 01/2015
1	Critical Care (Surgical Intensive Care) 04/2014
1	Orthotic Devices (Orthosis) 01/2010