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Enza Di Leo Selected Research

Chylomicron retention disease

7/2019Novel mutations of SAR1B gene in four children with chylomicron retention disease.
1/2016Homozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B.
1/2013Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia.

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Enza Di Leo Research Topics

Disease

14Hypobetalipoproteinemias (Hypobetalipoproteinemia)
11/2019 - 01/2004
9Abetalipoproteinemia (Bassen Kornzweig Syndrome)
07/2019 - 01/2004
4Fatty Liver
09/2017 - 01/2004
3Chylomicron retention disease
07/2019 - 01/2013
2Failure to Thrive
01/2016 - 05/2015
2Type C Niemann-Pick Disease (Niemann Pick Disease, Type C)
11/2004 - 11/2002
1Malnutrition (Nutritional Deficiencies)
07/2019
1Steatorrhea
07/2019
12 Familial Hypobetalipoproteinemia
09/2017
1Hyperlipidemias (Hyperlipidemia)
10/2015
1Diarrhea
05/2015
1Non-alcoholic Fatty Liver Disease
07/2005
1Obstructive Jaundice (Cholestatic Jaundice)
07/2005
1Gallstones (Gallstone)
07/2005
1Inborn Genetic Diseases (Disease, Hereditary)
11/2004
1Pseudoxanthoma Elasticum (Gronblad Strandberg Syndrome)
11/2004

Drug/Important Bio-Agent (IBA)

14Apolipoproteins B (ApoB)IBA
11/2019 - 01/2004
12ApolipoproteinsIBA
11/2019 - 01/2004
6LDL CholesterolIBA
11/2019 - 01/2004
5LipidsIBA
07/2019 - 10/2015
5oxidized low density lipoproteinIBA
02/2009 - 01/2004
4CholesterolIBA
11/2019 - 07/2005
4microsomal triglyceride transfer proteinIBA
11/2016 - 01/2004
3ChylomicronsIBA
07/2019 - 05/2015
3Triglycerides (Triacylglycerol)IBA
09/2017 - 03/2009
3LDL Lipoproteins (beta Lipoproteins)IBA
01/2016 - 07/2005
2O(4)-methylthymidine triphosphateIBA
07/2019 - 01/2013
2Peptides (Polypeptides)IBA
01/2016 - 03/2007
2Lipoproteins (Lipoprotein)IBA
03/2009 - 06/2005
2Proteins (Proteins, Gene)FDA Link
02/2009 - 03/2007
1HDL CholesterolIBA
09/2017
1Protein Disulfide-IsomerasesIBA
10/2015
1Vitamin A (Retinol)FDA LinkGeneric
05/2015
1Vitamin EFDA LinkGeneric
05/2015
1EnzymesIBA
12/2007
1Amino AcidsFDA Link
03/2007
1Apolipoproteins E (ApoE)IBA
06/2005
1Apolipoprotein E2IBA
06/2005
1Protein Isoforms (Isoforms)IBA
06/2005
1Adenosine Triphosphate (ATP)IBA
11/2004
1RNA Precursors (Precursor, mRNA)IBA
11/2004
1Membrane Transport Proteins (Biological Pump)IBA
11/2004
1Multidrug Resistance-Associated ProteinsIBA
11/2004
1Complementary DNA (cDNA)IBA
11/2002
1DNA (Deoxyribonucleic Acid)IBA
11/2002