Catherine Brunel-Guitton Selected Research

AB Variant Tay-Sachs Disease

6/2017

Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene.

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Catherine Brunel-Guitton Research Topics

Disease

2	Mitochondrial Diseases (Mitochondrial Disease) 01/2017 - 11/2015
2	Leigh Disease (Leigh's Disease) 01/2017 - 04/2010
1	Polymicrogyria 01/2022
1	Schizencephaly 01/2022
1	Neurologic Manifestations (Neurological Manifestations) 01/2018
1	Coma (Comas) 01/2018
1	Hyperammonemia 01/2018
1	Brain Edema (Cerebral Edema) 01/2018
1	Chorea (Rheumatic Chorea) 06/2017
1	Atrophy 06/2017
1	Dementia (Dementias) 06/2017
1	AB Variant Tay-Sachs Disease 06/2017
1	Primary Ovarian Insufficiency 01/2017
1	Tyrosinemias (Tyrosinemia) 01/2017
1	Hepatocellular Carcinoma (Hepatoma) 01/2017
1	Cardiomyopathies (Cardiomyopathy) 01/2015
1	Rhabdomyolysis 01/2015
1	Brain Diseases (Brain Disorder) 01/2015
1	Hypertriglyceridemia 01/2015
1	Congenital Generalized Lipodystrophy (Berardinelli-Seip Congenital Lipodystrophy) 01/2015
1	Ichthyosis (Xeroderma) 01/2015
1	Insulin Resistance 01/2015
1	Lipodystrophy 01/2015
1	Muscular Diseases (Myopathy) 01/2015
1	Majeed syndrome 01/2015
1	Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 01/2015
1	Nonketotic Hyperglycinemia 06/2011
1	Learning Disabilities (Learning Disability) 06/2011
1	Methylmalonic acidemia 12/2010
1	Hyperhomocysteinemia 12/2010
1	Nausea 12/2010
1	Weight Loss (Weight Reduction) 12/2010
1	Neurodegenerative Diseases (Neurodegenerative Disease) 04/2010
1	Gaucher Disease (Gaucher's Disease) 02/2009

Drug/Important Bio-Agent (IBA)

4	Proteins (Proteins, Gene)FDA Link 01/2018 - 12/2010
1	Carnitine palmitoyl transferase 2 deficiencyIBA 01/2022
1	AmmoniaIBA 01/2018
1	G(M2) Ganglioside (Ganglioside GM2)IBA 06/2017
1	Nonsense Codon (Nonsense Mutation)IBA 06/2017
1	nitisinone (Orfadin)FDA Link 01/2017
1	Follicle Stimulating Hormone (Follitropin)FDA Link 01/2017
1	Carnitine (L-Carnitine)FDA LinkGeneric 11/2015
1	Sterol Esterase (Hormone-Sensitive Lipase)IBA 01/2015
1	PyridoxalIBA 01/2015
1	Lipase (Acid Lipase)FDA Link 01/2015
1	LipidsIBA 01/2015
1	Perilipin-1IBA 01/2015
1	Glycine (Aminoacetic Acid)FDA LinkGeneric 06/2011
1	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 12/2010
1	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 04/2010

Therapy/Procedure

1	Therapeutics 01/2018
1	Liver Transplantation 01/2017
1	Enzyme Replacement Therapy 02/2009