Mathilde Di Filippo Selected Research

O(4)-methylthymidine triphosphate

1/2019	Normal serum ApoB48 and red cells vitamin E concentrations after supplementation in a novel compound heterozygous case of abetalipoproteinemia.
1/2019	Postprandial lipid absorption in seven heterozygous carriers of deleterious variants of MTTP in two abetalipoproteinemic families.
10/2014	Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia.
3/2012	Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.

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Mathilde Di Filippo Research Topics

Disease

4	Hyperlipoproteinemia Type II (Familial Hypercholesterolemia) 05/2022 - 11/2010
4	Abetalipoproteinemia (Bassen Kornzweig Syndrome) 01/2019 - 03/2012
3	Fatty Liver 04/2022 - 10/2014
3	Hypobetalipoproteinemias (Hypobetalipoproteinemia) 04/2022 - 01/2018
3	Dyslipidemias (Dyslipidemia) 12/2020 - 01/2017
3	Hypertriglyceridemia 11/2020 - 01/2014
2	Type 2 Diabetes Mellitus (MODY) 07/2022 - 10/2020
2	Cardiovascular Diseases (Cardiovascular Disease) 07/2022 - 05/2022
2	Hypercholesterolemia 05/2022 - 03/2016
2	Chylomicron retention disease 01/2018 - 12/2016
2	Vitamin E Deficiency 01/2018 - 12/2016
2	Atherosclerosis 01/2017 - 03/2016
2	Obesity 01/2017 - 10/2014
1	Inborn Genetic Diseases (Disease, Hereditary) 05/2022
1	Coronary Artery Disease (Coronary Atherosclerosis) 05/2022
1	Genetic Risk Score 01/2021
1	Lysosomal Storage Diseases (Lysosomal Storage Disease) 11/2020
1	Costello Syndrome 11/2020
1	Hyperlipoproteinemia Type I (Lipoprotein Lipase Deficiency, Familial) 11/2020
1	Renal Insufficiency (Renal Failure) 11/2020
1	Insulin Resistance 01/2017
1	Metabolic Diseases (Metabolic Disease) 01/2017
1	Rare Diseases (Rare Disease) 12/2016
1	Homozygous Familial Hypercholesterolemia 04/2016
1	Xanthomatosis (Xanthoma) 04/2016
1	Hyperlipidemias (Hyperlipidemia) 03/2016
1	Fibrosis (Cirrhosis) 10/2014
1	Retinitis Pigmentosa (Pigmentary Retinopathy) 03/2012

Drug/Important Bio-Agent (IBA)

7	LDL CholesterolIBA 05/2022 - 11/2010
5	LipidsIBA 07/2022 - 10/2014
5	Lipoproteins (Lipoprotein)IBA 07/2022 - 03/2012
5	ApolipoproteinsIBA 04/2022 - 11/2010
5	Apolipoproteins B (ApoB)IBA 04/2022 - 11/2010
4	Triglycerides (Triacylglycerol)IBA 07/2022 - 01/2014
4	Vitamin E FDA LinkGeneric 01/2019 - 03/2012
4	O(4)-methylthymidine triphosphateIBA 01/2019 - 03/2012
3	oxidized low density lipoproteinIBA 05/2022 - 03/2016
3	microsomal triglyceride transfer proteinIBA 01/2019 - 03/2012
2	Biomarkers (Surrogate Marker)IBA 07/2022 - 11/2020
1	SphingolipidsIBA 07/2022
1	Nonsense Codon (Nonsense Mutation)IBA 04/2022
1	Alanine Transaminase (SGPT)IBA 01/2021
1	DNA (Deoxyribonucleic Acid)IBA 12/2020
1	Amiodarone (Amiodarona)FDA LinkGeneric 11/2020
1	Pharmaceutical PreparationsIBA 11/2020
1	Anti-Arrhythmia AgentsIBA 11/2020
1	Palm OilIBA 10/2020
1	Biological ProductsIBA 01/2019
1	Apolipoprotein B-48IBA 01/2019
1	Rituximab (Mabthera)FDA Link 07/2018
1	Monoclonal AntibodiesIBA 07/2018
1	HDL LipoproteinsIBA 01/2017
1	LDL Lipoproteins (beta Lipoproteins)IBA 01/2017
1	Transaminases (Aminotransferases)IBA 01/2017
1	Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA 01/2017
1	Tocopherols (Tocopherol)IBA 12/2016
1	Apolipoproteins E (ApoE)IBA 03/2016
1	3' Untranslated Regions (3' UTR)IBA 01/2014
1	LDL Receptors (LDL Receptor)IBA 11/2010
1	Proprotein Convertase 9IBA 11/2010

Therapy/Procedure

3	Therapeutics 07/2018 - 04/2016
1	Enzyme Replacement Therapy 01/2017