Enza Di Leo - Concepedia

Author

Enza Di Leo

University of Modena and Reggio Emilia

Also Known As

E Di Leo, E. Di Leo, E. di Leo, Enza Di Leo

Publications

895

Citations

H-Index

Concepts

All Affiliations

University of Modena and Reggio Emilia University of Genoa University of Palermo University of Padua Ministry of Health

About

Enza Di Leo is an author at University of Modena and Reggio Emilia specializing in medicine, genetics, and genetic epidemiology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	8	8	189
2	Public Health	2	2	76
3	Biochemistry	2	2	81
4	Epidemiology	2	2	76
5	Natural Sciences	1	1	23

Enza Di Leo

Publications

620

Citations

H-Index

Page 1

	Year	Citations
A Novel Loss of Function Mutation of <i>PCSK9</i> Gene in White Subjects With Low-Plasma Low-Density Lipoprotein Cholesterol Tommaso Fasano, Angelo B. Cefalù, Enza Di Leo, Arteriosclerosis Thrombosis and Vascular Biology	2006	125
ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE) Dealba Gheduzzi, Rita Guidetti, Claudia Anzivino, Human Mutation	2004	67
Nonsynonymous Mutations within APOB in Human Familial Hypobetalipoproteinemia Shumei Zhong, Antonia Lucia Magnolo, Meenakshi Sundaram, Journal of Biological Chemistry	2009	64
Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia Enza Di Leo, S. Lancellotti, Junia Y. Penacchioni, Atherosclerosis Mtp GeneBiochemistryGenetic DisorderGeneticsMolecular Genetics	2005	58
Clinical and biochemical characteristics of individuals with low cholesterol syndromes: A comparison between familial hypobetalipoproteinemia and familial combined hypolipidemia Alessia Di Costanzo, Enza Di Leo, Davide Noto, Journal of clinical lipidology Low Cholesterol SyndromesMetabolic SyndromeLipid DisorderOxysterolCardiovascular Disease	2017	47
A point mutation in the lariat branch point of intron 6 ofNPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease Enza Di Leo, Francesca Panico, Patrizia Tarugi, Human Mutation	2004	36
Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia Lucia Magnolo, Mohamed Najah, Tatiana Fancello, Gene Tunisian ChildrenMendelian DisorderVariant InterpretationGenetic DisorderGenetics	2012	33
Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal β-Barrel in Microsomal Triglyceride Transfer Protein Function Meghan T. Walsh, Jahangir Iqbal, Joby Josekutty, Circulation Cardiovascular Genetics	2015	31
Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia Mohamed Najah, Enza Di Leo, Awatef Jelassi, Clinica Chimica Acta InfertilityHomozygous Familial HypobetalipoproteinemiaGlobal HealthInherited Metabolic DiseaseGenetic Epidemiology	2008	29
Variable phenotypic expression of homozygous familial hypobetalipoproteinaemia due to novel <i>APOB </i>gene mutations Enza Di Leo, Lucia Magnolo, Marco Bertolotti, Clinical Genetics	2008	24

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