المؤلفون: Komatsu T; Division of Anti-aging and Vascular Medicine, Department of Internal Medicine, National Defense Medical College.; Research Institute for Physical Activity, Fukuoka University.; Center for Preventive, Anti-aging and Regenerative Medicine, Fukuoka University Hospital., Katsurada Y; Department of Pathology and Laboratory Medicine, National Defense Medical College., Miyashita K; Immuno.Biological Laboratories (IBL) Co, Ltd., Abe S; Research Institute for Physical Activity, Fukuoka University., Nishida T; Division of Anti-aging and Vascular Medicine, Department of Internal Medicine, National Defense Medical College., Endo Y; Division of Anti-aging and Vascular Medicine, Department of Internal Medicine, National Defense Medical College., Teramoto M; Division of Anti-aging and Vascular Medicine, Department of Internal Medicine, National Defense Medical College., Sasaki K; Division of Anti-aging and Vascular Medicine, Department of Internal Medicine, National Defense Medical College.; Center for Preventive, Anti-aging and Regenerative Medicine, Fukuoka University Hospital., Arakawa J; Division of Anti-aging and Vascular Medicine, Department of Internal Medicine, National Defense Medical College., Sasaki M; Division of Anti-aging and Vascular Medicine, Department of Internal Medicine, National Defense Medical College., Suzuki N; Diabetes Center, Ebina General Hospital., Kuwata K; Department of Nephrology and Endocrinology, Department of Internal Medicine, National Defense Medical College., Imakiire T; Department of Nephrology and Endocrinology, Department of Internal Medicine, National Defense Medical College., Miyake T; Tokorozawa Heart Center., Sakurada M; Tokorozawa Heart Center., Matsukuma S; Department of Pathology and Laboratory Medicine, National Defense Medical College., Hirano T; Diabetes Center, Ebina General Hospital., Uehara Y; Research Institute for Physical Activity, Fukuoka University.; Center for Preventive, Anti-aging and Regenerative Medicine, Fukuoka University Hospital., Ikewaki K; Division of Anti-aging and Vascular Medicine, Department of Internal Medicine, National Defense Medical College.

المصدر: Journal of atherosclerosis and thrombosis [J Atheroscler Thromb] 2023 Aug 01; Vol. 30 (8), pp. 1070-1082. Date of Electronic Publication: 2022 Nov 16.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Japan Atherosclerosis Society Country of Publication: Japan NLM ID: 9506298 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1880-3873 (Electronic) Linking ISSN: 13403478 NLM ISO Abbreviation: J Atheroscler Thromb Subsets: MEDLINE

مواضيع طبية MeSH: Lecithins* , Lecithin Cholesterol Acyltransferase Deficiency*, Humans ; Sterol O-Acyltransferase ; Autoantibodies ; Phosphatidylcholine-Sterol O-Acyltransferase ; Lipoproteins, HDL ; Immunoglobulin G ; Cholesterol, HDL

المؤلفون: Bigazzi F; Lipoapheresis Unit, Reference Center for the Diagnosis and Treatment of Inherited Dyslipidemias, Fondazione Toscana "Gabriele Monasterio", Pisa, Italy., Dal Pino B; Lipoapheresis Unit, Reference Center for the Diagnosis and Treatment of Inherited Dyslipidemias, Fondazione Toscana "Gabriele Monasterio", Pisa, Italy., Pavanello C; E. Grossi Paoletti Center, Department of Pharmacology and Biomolecular Sciences, University of Milan, Milan, Italy., Sbrana F; Lipoapheresis Unit, Reference Center for the Diagnosis and Treatment of Inherited Dyslipidemias, Fondazione Toscana "Gabriele Monasterio", Pisa, Italy - francesco.sbrana@ftgm.com., Aquaro GD; MRI Lab, Department of Cardiology, Fondazione Toscana "Gabriele Monasterio", Pisa, Italy., Napoli V; Department of Translational Research and New Technologies in Medicine and Surgery, Pisa University, Pisa, Italy., Palmieri C; Division of Interventional Cardiology, Fondazione Toscana "Gabriele Monasterio", Pisa, Italy., Barison A; MRI Lab, Department of Cardiology, Fondazione Toscana "Gabriele Monasterio", Pisa, Italy., Calabresi L; E. Grossi Paoletti Center, Department of Pharmacology and Biomolecular Sciences, University of Milan, Milan, Italy., Sampietro T; Lipoapheresis Unit, Reference Center for the Diagnosis and Treatment of Inherited Dyslipidemias, Fondazione Toscana "Gabriele Monasterio", Pisa, Italy.

المصدر: Minerva medica [Minerva Med] 2023 Aug; Vol. 114 (4), pp. 535-537. Date of Electronic Publication: 2020 May 29.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Edizioni Minerva Medica Country of Publication: Italy NLM ID: 0400732 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1827-1669 (Electronic) Linking ISSN: 00264806 NLM ISO Abbreviation: Minerva Med Subsets: MEDLINE

مواضيع طبية MeSH: Lecithin Cholesterol Acyltransferase Deficiency*/complications , Lecithin Cholesterol Acyltransferase Deficiency*/genetics , Cardiovascular Diseases*/etiology , Atherosclerosis*/genetics, Humans ; Mutation

المؤلفون: Rath A; Department of Pathology and Lab Medicine, All India Institute of Medical Sciences, Bibinagar (Hyderabad Metropolitan Region), India. ashutoshrath10@gmail.com., Zahir Z; Department of Pathology, Government Medical College, Srinagar, India., Jain M; Department of Pathology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India., Patel MR; Department of Pathology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.

المصدر: Journal of nephrology [J Nephrol] 2023 Mar; Vol. 36 (2), pp. 319-321. Date of Electronic Publication: 2022 Sep 26.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Springer Country of Publication: Italy NLM ID: 9012268 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1724-6059 (Electronic) Linking ISSN: 11218428 NLM ISO Abbreviation: J Nephrol Subsets: MEDLINE

مواضيع طبية MeSH: Sterol O-Acyltransferase* , Lecithin Cholesterol Acyltransferase Deficiency*/complications , Lecithin Cholesterol Acyltransferase Deficiency*/diagnosis , Lecithin Cholesterol Acyltransferase Deficiency*/genetics, Humans ; Lecithins ; Nephrologists ; Kidney

المؤلفون: Khellaf G, Benziane A, Kaci L, Missoum S, Lahmar M, Benabadji M

المصدر: Clinical nephrology [Clin Nephrol] 2023 Feb; Vol. 99 (2), pp. 92-97.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Dustri-Verlag Dr. Karl Feistle Country of Publication: Germany NLM ID: 0364441 Publication Model: Print Cited Medium: Internet ISSN: 0301-0430 (Print) Linking ISSN: 03010430 NLM ISO Abbreviation: Clin Nephrol Subsets: MEDLINE

مواضيع طبية MeSH: Anemia* , Corneal Opacity* , Dyslipidemias* , Lecithin Cholesterol Acyltransferase Deficiency*/complications , Lecithin Cholesterol Acyltransferase Deficiency*/diagnosis , Lecithin Cholesterol Acyltransferase Deficiency*/genetics , Renal Insufficiency*/diagnosis , Renal Insufficiency*/etiology, Humans

المؤلفون: Goñi Ros N; Department of Clinical Biochemistry and Clinical Genetics, Hospital Universitario Miguel Servet, Zaragoza, Spain., González-Tarancón R; Department of Clinical Biochemistry and Clinical Genetics, Hospital Universitario Miguel Servet, Zaragoza, Spain., Sienes Bailo P; Department of Clinical Biochemistry and Clinical Genetics, Hospital Universitario Miguel Servet, Zaragoza, Spain., Salvador-Ruperez E; Department of Clinical Biochemistry and Clinical Genetics, Hospital Universitario Miguel Servet, Zaragoza, Spain., Puzo Bayod M; Department of Ophthalmology, Hospital Universitario Miguel Servet, Zaragoza, Spain., Puzo Foncillas J; Miguel Servet Ophthalmology Research Group (GIMSO), Aragón Institute for Health Research (Iis-aragón), Zaragoza, Spain.; Department of Clinical Biochemistry, Hospital Universitario San Jorge, Huesca, Spain.

المصدر: Acta clinica Belgica [Acta Clin Belg] 2022 Dec; Vol. 77 (6), pp. 970-975. Date of Electronic Publication: 2021 Nov 18.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Taylor & Francis Country of Publication: England NLM ID: 0370306 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2295-3337 (Electronic) Linking ISSN: 17843286 NLM ISO Abbreviation: Acta Clin Belg Subsets: MEDLINE

مواضيع طبية MeSH: Corneal Opacity*/etiology , Corneal Opacity*/genetics , Lecithin Cholesterol Acyltransferase Deficiency*/complications , Lecithin Cholesterol Acyltransferase Deficiency*/diagnosis , Lecithin Cholesterol Acyltransferase Deficiency*/genetics, Humans ; Male ; Cholesterol, HDL ; Histidine ; Lecithins ; Phosphatidylcholine-Sterol O-Acyltransferase/genetics ; Sterol O-Acyltransferase ; Threonine

المؤلفون: Vitali C; Department of Medicine., Rader DJ; Department of Medicine.; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Cuchel M; Department of Medicine.

المصدر: Current opinion in lipidology [Curr Opin Lipidol] 2023 Apr 01; Vol. 34 (2), pp. 35-43. Date of Electronic Publication: 2022 Dec 06.

نوع المنشور: Review; Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9010000 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-6535 (Electronic) Linking ISSN: 09579672 NLM ISO Abbreviation: Curr Opin Lipidol Subsets: MEDLINE

مواضيع طبية MeSH: Kidney Diseases* , Lecithin Cholesterol Acyltransferase Deficiency*/drug therapy, Humans ; Biomarkers ; Disease Progression ; Kidney ; Phenotype ; Phosphatidylcholine-Sterol O-Acyltransferase/genetics

المؤلفون: Vitali C; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Bajaj A; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Nguyen C; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Schnall J; Department of Biostatistics, Epidemiology and Informatics, University of Pennsylvania, Philadelphia, PA, USA., Chen J; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Department of Biostatistics, Epidemiology and Informatics, University of Pennsylvania, Philadelphia, PA, USA., Stylianou K; Department of Nephrology, Heraklion University Hospital, Crete, Greece., Rader DJ; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Cuchel M; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address: mcuchel@pennmedicine.upenn.edu.

المصدر: Journal of lipid research [J Lipid Res] 2022 Mar; Vol. 63 (3), pp. 100169. Date of Electronic Publication: 2022 Jan 20.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review; Systematic Review

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0376606 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1539-7262 (Electronic) Linking ISSN: 00222275 NLM ISO Abbreviation: J Lipid Res Subsets: MEDLINE

مواضيع طبية MeSH: Lecithin Cholesterol Acyltransferase Deficiency*/complications , Lecithin Cholesterol Acyltransferase Deficiency*/genetics, Humans ; Biomarkers ; Heterozygote ; Mutation ; Phosphatidylcholine-Sterol O-Acyltransferase/genetics

المؤلفون: Takeda T; Department of Endocrinology and Diabetology, Anjo Kosei Hospital, 28 Higashihirokute, Anjo, Aichi 446-8602, Japan (Drs Takeda, Ide, and Mizutani)., Ide T; Department of Endocrinology and Diabetology, Anjo Kosei Hospital, 28 Higashihirokute, Anjo, Aichi 446-8602, Japan (Drs Takeda, Ide, and Mizutani)., Okuda D; Department of Ophthalmology, Anjo Kosei Hospital, 28 Higashihirokute, Anjo, Aichi 446-8602, Japan (Dr Okuda)., Kuroda M; Center for Advanced Medicine, Chiba University Hospital, Chiba University, 1-8-1 Inohana Chuo-ku, Chiba 260-8677, Japan (Dr Kuroda). Electronic address: kurodam@faculty.chiba-u.jp., Asada S; CellGenTech, Inc. 1-8-15 Inohana Chuo-ku, Chiba 260-0856, Japan (Drs Asada, Kirinashizawa, Yamamoto, and Miyoshi)., Kirinashizawa M; CellGenTech, Inc. 1-8-15 Inohana Chuo-ku, Chiba 260-0856, Japan (Drs Asada, Kirinashizawa, Yamamoto, and Miyoshi)., Yamamoto M; CellGenTech, Inc. 1-8-15 Inohana Chuo-ku, Chiba 260-0856, Japan (Drs Asada, Kirinashizawa, Yamamoto, and Miyoshi)., Miyoshi J; CellGenTech, Inc. 1-8-15 Inohana Chuo-ku, Chiba 260-0856, Japan (Drs Asada, Kirinashizawa, Yamamoto, and Miyoshi)., Yokote K; Department of Endocrinology, Hematology and Gerontology, Chiba University Graduate School of Medicine, Chiba University, 1-8-1 Inohana Chuo-ku, Chiba 260-0856, Japan (Dr Yokote)., Mizutani N; Department of Endocrinology and Diabetology, Anjo Kosei Hospital, 28 Higashihirokute, Anjo, Aichi 446-8602, Japan (Drs Takeda, Ide, and Mizutani).

المصدر: Journal of clinical lipidology [J Clin Lipidol] 2022 Jul-Aug; Vol. 16 (4), pp. 423-433. Date of Electronic Publication: 2022 Jun 17.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 101300157 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1933-2874 (Print) Linking ISSN: 18764789 NLM ISO Abbreviation: J Clin Lipidol Subsets: MEDLINE

مواضيع طبية MeSH: Corneal Opacity*/diagnosis , Corneal Opacity*/genetics , Lecithin Cholesterol Acyltransferase Deficiency*/diagnosis, Apolipoprotein A-I/genetics ; Cholesterol, HDL/genetics ; Female ; Frameshift Mutation ; Humans ; Lipoproteins, HDL/genetics ; Male ; Middle Aged ; Phosphatidylcholine-Sterol O-Acyltransferase/genetics

المؤلفون: Pavanello C; Centro E. Grossi Paoletti, Dipartimento di Scienze Farmacologiche e Biomolecolari, Università degli Studi di Milano, Milano, Italy., Ossoli A; Centro E. Grossi Paoletti, Dipartimento di Scienze Farmacologiche e Biomolecolari, Università degli Studi di Milano, Milano, Italy., Strazzella A; Centro E. Grossi Paoletti, Dipartimento di Scienze Farmacologiche e Biomolecolari, Università degli Studi di Milano, Milano, Italy., Risè P; Dipartimento di Scienze Farmaceutiche, Università degli Studi di Milano, Milano, Italy., Veglia F; Maria Cecilia Hospital, Cotignola, Italy., Lhomme M; ICAN analytics, IHU ICAN Foundation for Innovation in Cardiometabolism and Nutrition, Paris, France., Parini P; Cardio Metabolic Unit, Department of Medicine and Department of Laboratory Medicine, Karolinska Institutet, and Medicine Unit Endocrinology, Theme Inflammation and Ageing, Karolinska University Hospital, Stockholm, Sweden., Calabresi L; Centro E. Grossi Paoletti, Dipartimento di Scienze Farmacologiche e Biomolecolari, Università degli Studi di Milano, Milano, Italy. Electronic address: laura.calabresi@unimi.it.

المصدر: Journal of lipid research [J Lipid Res] 2022 Jul; Vol. 63 (7), pp. 100232. Date of Electronic Publication: 2022 May 19.

نوع المنشور: Journal Article; Observational Study

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0376606 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1539-7262 (Electronic) Linking ISSN: 00222275 NLM ISO Abbreviation: J Lipid Res Subsets: MEDLINE

مواضيع طبية MeSH: Lecithin Cholesterol Acyltransferase Deficiency*/genetics, Phosphatidylcholine-Sterol O-Acyltransferase/*metabolism , Sterol O-Acyltransferase/*metabolism, Apolipoproteins B ; Cholesterol/metabolism ; Cholesterol Esters ; Humans ; Lipoproteins ; Phosphatidylcholine-Sterol O-Acyltransferase/genetics ; Sterol O-Acyltransferase 2

المؤلفون: Pavanello C; Dipartimento di Scienze Farmacologiche e Biomolecolari, Centro E. Grossi Paoletti, Università degli Studi di Milano, Milan, Italy., Turri M; Dipartimento di Scienze Farmacologiche e Biomolecolari, Centro E. Grossi Paoletti, Università degli Studi di Milano, Milan, Italy., Strazzella A; Dipartimento di Scienze Farmacologiche e Biomolecolari, Centro E. Grossi Paoletti, Università degli Studi di Milano, Milan, Italy., Tulissi P; Unit of Nephrology, Dialysis and Renal Transplantation, S. Maria della Misericordia Hospital, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy., Pizzolitto S; Unit of Pathology, S. Maria della Misericordia Hospital, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy., De Maglio G; Unit of Pathology, S. Maria della Misericordia Hospital, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy., Nappi R; Unit of Nephrology, Dialysis and Renal Transplantation, S. Maria della Misericordia Hospital, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy., Calabresi L; Dipartimento di Scienze Farmacologiche e Biomolecolari, Centro E. Grossi Paoletti, Università degli Studi di Milano, Milan, Italy., Boscutti G; Unit of Nephrology, Dialysis and Renal Transplantation, S. Maria della Misericordia Hospital, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy.

المصدر: Journal of internal medicine [J Intern Med] 2022 Mar; Vol. 291 (3), pp. 364-370. Date of Electronic Publication: 2021 Nov 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 8904841 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2796 (Electronic) Linking ISSN: 09546820 NLM ISO Abbreviation: J Intern Med Subsets: MEDLINE

مواضيع طبية MeSH: Lecithin Cholesterol Acyltransferase Deficiency*/drug therapy , Lecithin Cholesterol Acyltransferase Deficiency*/pathology, Apolipoprotein A-I/therapeutic use ; Humans ; Kidney/pathology ; Lipoproteins ; Phosphatidylcholine-Sterol O-Acyltransferase/pharmacology ; Phosphatidylcholine-Sterol O-Acyltransferase/therapeutic use ; Phospholipids ; Recombinant Proteins