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P Laforêt Selected Research

Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase

5/2020Sensory neuronopathy as a major clinical feature of mitochondrial trifunctional protein deficiency in adults.

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P Laforêt Research Topics

Disease

8Muscular Diseases (Myopathy)
11/2021 - 12/2001
4Rhabdomyolysis
11/2021 - 07/2010
4Glycogen Storage Disease Type II (Pompe's Disease)
01/2017 - 07/2007
4Mitochondrial Myopathies (Mitochondrial Myopathy)
02/2012 - 06/2001
4Muscle Weakness
02/2012 - 07/2000
4Mitochondrial Diseases (Mitochondrial Disease)
03/2006 - 05/2001
3Multiple Acyl Coenzyme A Dehydrogenase Deficiency
12/2018 - 03/2010
3Myalgia
05/2018 - 07/2000
2Myositis (Idiopathic Inflammatory Myopathies)
05/2018 - 07/2000
2Cardiomyopathies (Cardiomyopathy)
10/2015 - 09/2013
2Stroke (Strokes)
01/2011 - 12/2000
2MELAS Syndrome (Syndrome, MELAS)
02/2001 - 12/2000
1Peripheral Nervous System Diseases (PNS Diseases)
05/2020
1Trifunctional Protein Deficiency With Myopathy And Neuropathy
05/2020
1Congenital Disorders of Glycosylation
01/2019
1Walker-Warburg Syndrome
01/2019
1Brain Diseases (Brain Disorder)
12/2018
1Muscle Cramp (Cramp)
05/2018
1Hypertrophy
05/2018
1Hereditary Myopathy with Early Respiratory Failure
10/2015
1Myofibrillar Myopathy
10/2015
1Distal Myopathies (Distal Muscular Dystrophy)
10/2015
1Glycogen Storage Disease Type V (McArdle's Disease)
06/2015
1Dilated Cardiomyopathy (Cardiomyopathy, Congestive)
09/2013
1Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital)
02/2013
1Disease Progression
02/2012
1Pain (Aches)
07/2010
1Inborn Genetic Diseases (Disease, Hereditary)
03/2010
1Facioscapulohumeral Muscular Dystrophy
07/2009
1Malabsorption Syndromes (Malabsorption Syndrome)
12/2008
1Chylomicron retention disease
12/2008
1Liver Diseases (Liver Disease)
12/2008
1Myotonic Dystrophy (Dystrophia Myotonica)
08/2008
1Neuromuscular Diseases (Neuromuscular Disease)
08/2008
1Nonaka type Distal myopathy
05/2008
1Myasthenia Gravis
03/2006
1Central Core Myopathy (Central Core Disease)
10/2005
1Visceral myopathy familial external ophthalmoplegia
04/2005
1Intestinal Pseudo-Obstruction (Intestinal Pseudoobstruction)
04/2005
1Heart Failure
08/2004
1Muscular Dystrophies (Muscular Dystrophy)
02/2004
1Lipomatosis
12/2003
1Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy)
05/2001
1Asthenia
07/2000
1Body Weight (Weight, Body)
07/2000
1Arthralgia (Joint Pain)
07/2000
1Macrophagic myofasciitis
07/2000
1Polymyositis
02/2000

Drug/Important Bio-Agent (IBA)

7Mitochondrial DNA (mtDNA)IBA
02/2012 - 12/2000
3Fatty Acids (Saturated Fatty Acids)IBA
05/2020 - 03/2010
3Creatine Kinase (Creatine Phosphokinase)IBA
05/2018 - 07/2000
2acylcarnitineIBA
12/2018 - 03/2010
2Riboflavin (Vitamin B2)FDA LinkGeneric
12/2018 - 12/2018
2Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA
05/2018 - 10/2005
2alpha-Glucosidases (Acid Maltase)IBA
08/2013 - 10/2007
2AcidsIBA
08/2013 - 10/2007
2Carnitine palmitoyl transferase 2 deficiencyIBA
07/2010 - 01/2003
2LipidsIBA
12/2008 - 12/2001
2Transfer RNA (tRNA)IBA
05/2001 - 02/2001
1Hypoglycemic Agents (Hypoglycemics)IBA
05/2020
1Long-Chain-3-Hydroxyacyl-CoA DehydrogenaseIBA
05/2020
1Mannose (D-Mannose)IBA
01/2019
1DolicholsIBA
01/2019
1Flavin-Adenine Dinucleotide (FAD)IBA
12/2018
1Immunosuppressive Agents (Immunosuppressants)IBA
05/2018
1ConnectinIBA
10/2015
1DesminIBA
10/2015
1Proteins (Proteins, Gene)FDA Link
10/2015
1DNA (Deoxyribonucleic Acid)IBA
06/2015
1AnoctaminsIBA
09/2013
1Chloride Channels (Chloride Channel)IBA
09/2013
1Therapeutic UsesIBA
07/2010
1Carnitine O-Palmitoyltransferase (Carnitine Palmitoyltransferase II)IBA
07/2010
1Albuterol (Salbutamol)FDA LinkGeneric
07/2009
1Transaminases (Aminotransferases)IBA
12/2008
1Dehydroepiandrosterone (DHEA)IBA
08/2008
1Dihydrotachysterol (AT 10)IBA
08/2008
1N-acylmannosamine kinaseIBA
05/2008
1Uridine Diphosphate (UDP)IBA
05/2008
1AcetylglucosamineIBA
05/2008
1Racemases and Epimerases (Epimerases and Racemases)IBA
05/2008
1human GAA protein (Myozyme)FDA Link
10/2007
1myasthenia gravis anti-skeletal muscle antibody (ASMA)IBA
03/2006
1Nonsense Codon (Nonsense Mutation)IBA
08/2004
1Muscle Proteins (Muscle Protein)IBA
02/2004
1Phosphocreatine (Neoton)IBA
01/2003
1GlycogenIBA
12/2001
1Cytochromes b (Cytochrome b)IBA
07/2001
1Lactic Acid (Lactate)FDA LinkGeneric
06/2001
1Glutamine (L-Glutamine)FDA Link
02/2001
1Gallium-67IBA
07/2000
1Adrenal Cortex Hormones (Corticosteroids)IBA
02/2000

Therapy/Procedure

4Enzyme Replacement Therapy
01/2017 - 07/2007
1Bariatric Surgery
11/2021
1Therapeutics
02/2013
1Thymectomy
03/2006
1Intravenous Injections
07/2000
1Gamma Cameras (Gamma Camera)
07/2000