Mathilde Di Filippo Selected Research

Homozygous Familial Hypercholesterolemia

1/2023	Additive Effect of APOE Rare Variants on the Phenotype of Familial Hypercholesterolemia.
4/2016	Homozygous familial hypercholesterolemia in childhood: Genotype-phenotype description, established therapies and perspectives.

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Mathilde Di Filippo Research Topics

Disease

7	Hyperlipoproteinemia Type II (Familial Hypercholesterolemia) 01/2023 - 11/2010
5	Hypobetalipoproteinemias (Hypobetalipoproteinemia) 11/2023 - 01/2018
5	Cardiovascular Diseases (Cardiovascular Disease) 01/2023 - 01/2022
4	Hypertriglyceridemia 09/2023 - 01/2014
4	Abetalipoproteinemia (Bassen Kornzweig Syndrome) 01/2019 - 03/2012
3	Atherosclerosis 10/2022 - 03/2016
3	Fatty Liver 04/2022 - 10/2014
2	Fibrosis (Cirrhosis) 02/2024 - 10/2014
2	Genetic Risk Score 01/2023 - 01/2021
2	Homozygous Familial Hypercholesterolemia 01/2023 - 04/2016
2	Type 2 Diabetes Mellitus (MODY) 12/2022 - 10/2020
2	Coronary Artery Disease (Coronary Atherosclerosis) 10/2022 - 05/2022
2	Hypercholesterolemia 05/2022 - 03/2016
2	Dyslipidemias (Dyslipidemia) 12/2020 - 01/2017
2	Chylomicron retention disease 01/2018 - 12/2016
2	Vitamin E Deficiency 01/2018 - 12/2016
2	Obesity 01/2017 - 10/2014
1	Liver Diseases (Liver Disease) 02/2024
1	Vascular Diseases (Vascular Disease) 01/2023
1	Pathologic Constriction (Stenosis) 01/2023
1	Inborn Genetic Diseases (Disease, Hereditary) 05/2022
1	Hyperlipoproteinemia Type I (Lipoprotein Lipase Deficiency, Familial) 11/2020
1	Lysosomal Storage Diseases (Lysosomal Storage Disease) 11/2020
1	Renal Insufficiency (Renal Failure) 11/2020
1	Costello Syndrome 11/2020
1	Insulin Resistance 01/2017
1	Metabolic Diseases (Metabolic Disease) 01/2017
1	Rare Diseases (Rare Disease) 12/2016
1	Xanthomatosis (Xanthoma) 04/2016
1	Hyperlipidemias (Hyperlipidemia) 03/2016
1	Retinitis Pigmentosa (Pigmentary Retinopathy) 03/2012

Drug/Important Bio-Agent (IBA)

11	LDL CholesterolIBA 01/2023 - 11/2010
8	Apolipoproteins B (ApoB)IBA 02/2024 - 11/2010
8	LipidsIBA 09/2023 - 10/2014
5	Lipoproteins (Lipoprotein)IBA 12/2022 - 03/2012
5	ApolipoproteinsIBA 04/2022 - 11/2010
4	oxidized low density lipoproteinIBA 01/2023 - 03/2016
4	Triglycerides (Triacylglycerol)IBA 12/2022 - 01/2014
4	Vitamin E FDA LinkGeneric 01/2019 - 03/2012
4	O(4)-methylthymidine triphosphateIBA 01/2019 - 03/2012
3	microsomal triglyceride transfer proteinIBA 01/2019 - 03/2012
2	DNA (Deoxyribonucleic Acid)IBA 01/2023 - 12/2020
2	Apolipoproteins E (ApoE)IBA 01/2023 - 03/2016
2	Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA 01/2023 - 01/2017
2	Biomarkers (Surrogate Marker)IBA 12/2022 - 11/2020
2	LDL Lipoproteins (beta Lipoproteins)IBA 01/2022 - 01/2017
1	CalciumIBA 01/2023
1	SphingolipidsIBA 12/2022
1	Nonsense Codon (Nonsense Mutation)IBA 04/2022
1	Alanine Transaminase (SGPT)IBA 01/2021
1	Amiodarone (Amiodarona)FDA LinkGeneric 11/2020
1	Anti-Arrhythmia AgentsIBA 11/2020
1	Palm OilIBA 10/2020
1	Apolipoprotein B-48IBA 01/2019
1	Monoclonal AntibodiesIBA 07/2018
1	Rituximab (Mabthera)FDA Link 07/2018
1	HDL LipoproteinsIBA 01/2017
1	Transaminases (Aminotransferases)IBA 01/2017
1	Tocopherols (Tocopherol)IBA 12/2016
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

4	Therapeutics 01/2023 - 04/2016
1	Enzyme Replacement Therapy 01/2017