Christine Vianey-Saban Selected Research

Transaldolase Deficiency

1/2016	Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
1/2016	Antenatal manifestations of inborn errors of metabolism: biological diagnosis.

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Christine Vianey-Saban Research Topics

Disease

4	Inborn Errors Metabolism (Inborn Errors of Metabolism) 06/2016 - 01/2011
4	Multiple Acyl Coenzyme A Dehydrogenase Deficiency 01/2016 - 06/2006
3	Cystinosis 01/2021 - 01/2020
3	Muscular Diseases (Myopathy) 01/2018 - 11/2010
3	Peroxisomal Disorders (Peroxisomal Disorder) 01/2016 - 07/2015
3	Hepatomegaly 09/2013 - 05/2011
3	Rhabdomyolysis 11/2010 - 06/2006
3	Hyperammonemia 01/2008 - 04/2005
2	Brain Diseases (Brain Disorder) 12/2019 - 08/2002
2	Sphingolipidoses (Sphingolipidosis) 01/2018 - 01/2017
2	Medium chain acyl CoA dehydrogenase deficiency 01/2017 - 10/2010
2	VLCAD deficiency 01/2017 - 05/2009
2	Methylmalonic acidemia 08/2016 - 01/2008
2	Nonketotic Hyperglycinemia 01/2016 - 11/2010
2	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2016 - 07/2015
2	Transaldolase Deficiency 01/2016 - 01/2016
2	Metabolic Diseases (Metabolic Disease) 09/2013 - 05/2011
2	Guanidinoacetate methyltransferase deficiency 12/2012 - 04/2006
2	Hypoglycemia (Reactive Hypoglycemia) 01/2012 - 05/2011
2	Mucopolysaccharidosis I (Hurler Syndrome) 06/2011 - 04/2011
2	Renal Insufficiency (Renal Failure) 05/2011 - 04/2006
2	Muscle Weakness 01/2011 - 11/2010
2	Cardiomyopathies (Cardiomyopathy) 01/2008 - 08/2002
1	Disease Progression 01/2021
1	Brown-Vialetto-Van Laere syndrome 01/2021
1	Glycogen Storage Disease (Glycogenosis) 06/2020
1	Microcephaly 12/2019
1	Precursor Cell Lymphoblastic Leukemia-Lymphoma (Acute Lymphoblastic Leukemia) 01/2018
1	Hypospadias 03/2017
1	Penis agenesis 03/2017
1	Cryptorchidism (Undescended Testes) 03/2017
1	Gaucher Disease (Gaucher's Disease) 01/2017
1	Hydrops Fetalis (Fetal Edema) 01/2017
1	Ketosis 01/2017
1	Fabry Disease (Fabry's Disease) 01/2017
1	Type C Niemann-Pick Disease (Niemann Pick Disease, Type C) 01/2017
1	Canavan Disease (Leukodystrophy, Spongiform) 01/2017
1	GM2 Gangliosidoses (GM2 Gangliosidosis) 01/2017
1	Insulin Resistance 12/2016
1	Hyperhomocysteinemia 08/2016
1	Congenital Disorders of Glycosylation 01/2016

Drug/Important Bio-Agent (IBA)

12	Fatty Acids (Saturated Fatty Acids)IBA 01/2018 - 06/2006
5	EnzymesIBA 01/2017 - 01/2011
5	Carnitine (L-Carnitine)FDA LinkGeneric 01/2011 - 08/2002
3	Riboflavin (Vitamin B2)FDA LinkGeneric 01/2021 - 03/2011
3	Biomarkers (Surrogate Marker)IBA 06/2020 - 01/2017
3	Carnitine palmitoyl transferase 2 deficiencyIBA 01/2018 - 05/2009
3	SphingolipidsIBA 01/2018 - 01/2016
3	Proteins (Proteins, Gene)FDA Link 01/2017 - 08/2008
3	Long-Chain Acyl-CoA Dehydrogenase (Long-Chain-Acyl-Coenzyme A Dehydrogenase)IBA 01/2017 - 05/2009
3	CholesterolIBA 01/2016 - 07/2015
3	Oxidoreductases (Dehydrogenase)IBA 04/2014 - 06/2006
2	Aspartate-Ammonia Ligase (Asparagine Synthetase)IBA 12/2019 - 01/2016
2	Carnitine O-Palmitoyltransferase (Carnitine Palmitoyltransferase II)IBA 01/2018 - 01/2012
2	Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA 01/2017 - 10/2010
2	Biological ProductsIBA 01/2017 - 01/2016
2	GlycogenIBA 01/2016 - 05/2011
2	Iduronidase (alpha-L-Iduronidase)IBA 06/2011 - 04/2011
2	Galactose (Galactopyranose)FDA LinkGeneric 05/2011 - 03/2006
2	coenzyme Q10 (CoQ10)IBA 03/2011 - 11/2010
2	Electron-Transferring Flavoproteins (Electron Transfer Flavoprotein)IBA 03/2011 - 06/2006
2	UbiquinoneIBA 03/2011 - 06/2006
2	TransferasesIBA 01/2011 - 11/2010
2	Amino Acids FDA Link 01/2011 - 03/2006
2	Systemic carnitine deficiencyIBA 11/2010 - 08/2002
2	Hypoglycemic Agents (Hypoglycemics)IBA 10/2010 - 08/2002
2	AmmoniaIBA 01/2008 - 03/2006
2	Glutamic Acid (Glutamate)FDA Link 01/2008 - 08/2005
2	N-acetyl glutamate synthetase deficiencyIBA 08/2005 - 04/2005
1	Cysteamine (Mercaptamine)FDA Link 01/2021
1	glucose tetrasaccharideIBA 06/2020
1	Pharmaceutical PreparationsIBA 04/2020
1	Cystine (L-Cystine)IBA 01/2020
1	globotriaosylceramide (globotriosylceramide)IBA 01/2018
1	OxysterolsIBA 01/2018
1	AntibodiesIBA 01/2018
1	Asparaginase (Elspar)FDA Link 01/2018
1	AsparagineIBA 01/2018
1	Bile Acids and Salts (Bile Acids)IBA 01/2018
1	Sulfoglycosphingolipids (Sulfatides)IBA 01/2018
1	Hormones (Hormone)IBA 03/2017
1	lysoGM1 gangliosideIBA 01/2017
1	aspartoacylaseIBA 01/2017
1	GangliosidesIBA 01/2017
1	Glucosylceramidase (Glucocerebrosidase)IBA 01/2017
1	Beta ketothiolase deficiencyIBA 01/2017
1	Dihydrotachysterol (AT 10)IBA 01/2017
1	sphingosine phosphorylcholineIBA 01/2017
1	p38 Mitogen-Activated Protein KinasesIBA 12/2016
1	Insulin (Novolin)FDA Link 12/2016
1	Oleic Acid (Oleate)IBA 12/2016
1	PalmitatesIBA 12/2016
1	Methylmalonyl-CoA MutaseIBA 08/2016
1	Methylmalonic AcidIBA 08/2016
1	Flavin-Adenine Dinucleotide (FAD)IBA 06/2016
1	DesmosterolIBA 01/2016
1	DNA (Deoxyribonucleic Acid)IBA 01/2016
1	cholesta-5,8-dien-3 beta-olIBA 01/2016

Therapy/Procedure

3	Therapeutics 01/2008 - 08/2002
1	Parenteral Nutrition 01/2016