 |
|
Sitosterolemia: a review and update of pathophysiology, clinical spectrum, diagnosis, and management
Eun-Gyong Yoo
Ann Pediatr Endocrinol Metab. 2016;21(1):7-14. Published online 2016 Mar 31 DOI: https://doi.org/10.6065/apem.2016.21.1.7
|
|
Citations to this article as recorded by
 Genetic backgrounds and diagnosis of familial hypercholesterolemia
Joanna Rogozik, Renata Główczyńska, Marcin Grabowski
Clinical Genetics.2024; 105(1): 3. CrossRef Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low‐GGT intrahepatic cholestasis: Genetic diagnosis and genotype–phenotype correlation assessment
Boudour Khabou, Fakhri Kallabi, Rim Ben Abdelaziz, Ines Maaloul, Hajer Aloulou, Amel ben Chehida, Thouraya Kammoun, Veronique Barbu, Tahya Sellami Boudawara, Faiza Fakhfakh, Bassem Khemakhem, Olfa Siala Sahnoun
Annals of Human Genetics.2024; 88(3): 194. CrossRef The Expansion of Genetic Testing in Cardiovascular Medicine: Preparing the Cardiology Community for the Changing Landscape
Nosheen Reza, Raye L. Alford, John W. Belmont, Nicholas Marston
Current Cardiology Reports.2024; 26(3): 135. CrossRef UPLC-Orbitrap-HRMS application for analysis of plasma sterols
Maria van der Ham, Johan Gerrits, Berthil Prinsen, Peter van Hasselt, Sabine Fuchs, Judith Jans, Anke Willems, Monique de Sain-van der Velden
Analytica Chimica Acta.2024; 1296: 342347. CrossRef Gene variants and clinical characteristics of children with sitosterolemia
Rui Gu, Hui Wang, Chun-Lin Wang, Mei Lu, Miao Miao, Meng-Na Huang, Yi Chen, Yang-Li Dai, Ming-Qiang Zhu, Qiong Zhou, Chao-Chun Zou
Lipids in Health and Disease.2024;[Epub] CrossRef Children with Severe Hypercholesterolemia Caused by a Pathogenic Mutation in ABCG5
Hayato Tada, Hirofumi Okada, Akihiro Nomura, Masayuki Takamura, Masa-aki Kawashiri
Internal Medicine.2023; 62(2): 251. CrossRef Sitosterolemia: A Case Report and a Concise Literature Review
Moeber M. Mahzari, Osamu Isozaki
Case Reports in Endocrinology.2023; 2023: 1. CrossRef Red blood cells from patients with sitosterolemia exhibit impaired membrane lipid composition and distribution and decreased deformability
Anne-Sophie Cloos, Minke A. E. Rab, Patrick Van Der Smissen, Brigitte A. van Oirschot, Eric Mignolet, Jeroen B. van der Net, Ad Koster, Kelly Kleinen, Yvan Larondelle, Romano Terrasi, Giulio G. Muccioli, Richard van Wijk, Donatienne Tyteca
Frontiers in Hematology.2023;[Epub] CrossRef Update on Sitosterolemia and Atherosclerosis
Viviane Zorzanelli Rocha, Mauricio Teruo Tada, Ana Paula Marte Chacra, Marcio Hiroshi Miname, Marjorie H. Mizuta
Current Atherosclerosis Reports.2023; 25(5): 181. CrossRef Reducing Premature Coronary Artery Disease in Malaysia by Early Identification of Familial Hypercholesterolemia Using the Familial Hypercholesterolemia Case Ascertainment Tool (FAMCAT): Protocol for a Mixed Methods Evaluation Study
Anis Safura Ramli, Nadeem Qureshi, Hasidah Abdul-Hamid, Aisyah Kamal, Johanes Dedi Kanchau, Nur Syahirah Shahuri, Ralph Kwame Akyea, Luisa Silva, Laura Condon, Suraya Abdul-Razak, Alyaa Al-Khateeb, Yung-An Chua, Mohamed-Syarif Mohamed-Yassin, Noorhida Bah
JMIR Research Protocols.2023; 12: e47911. CrossRef Pediatric Patients with Sitosterolemia: Next-Generation Sequencing and Biochemical Examination in Clinical Practice
Valentina V. Miroshnikova, Petr A. Vasiluev, Svetlana V. Linkova, Vladislav M. Soloviov, Olga N. Ivanova, Ekaterina R. Tolmacheva, Vasilisa Y. Udalova, Polina V. Baranova, Darya Y. Aleksandrova, Tatiana V. Strokova, Irina M. Miklashevich, Artem D. Izumche
Journal of Personalized Medicine.2023; 13(10): 1492. CrossRef Clinical and biochemical footprints of inherited metabolic disease. XVI. Hematological abnormalities
Eoghan Dunlea, Ellen Crushell, Melanie Cotter, Nenad Blau, Carlos R. Ferreira
Molecular Genetics and Metabolism.2023; 140(4): 107735. CrossRef Orbital involvement of Sitosterolemia
Linda O. Okafor, Jeremy Bowyer, Caroline Thaung, Elaine Murphy, David H. Verity
Orbit.2022; 41(1): 118. CrossRef Acute Coronary Syndrome Developed in a 17-year-old Boy with Sitosterolemia Comorbid with Takayasu Arteritis: A Rare Case Report and Review of the Literature
Keita Iyama, Satoshi Ikeda, Seiji Koga, Tsuyoshi Yoshimuta, Hiroaki Kawano, Sosuke Tsuji, Koji Ando, Kayoko Matsushima, Hayato Tada, Masa-aki Kawashiri, Atsushi Kawakami, Koji Maemura
Internal Medicine.2022; 61(8): 1169. CrossRef Biological and pharmacological effects and nutritional impact of phytosterols: A comprehensive review
Elyas Nattagh‐Eshtivani, Hanieh Barghchi, Naseh Pahlavani, Mehdi Barati, Yasaman Amiri, Abdulmannan Fadel, Maryam Khosravi, Saeedeh Talebi, Pishva Arzhang, Rahele Ziaei, Abed Ghavami
Phytotherapy Research.2022; 36(1): 299. CrossRef Misdiagnosis of sitosterolemia in a patient as Evans syndrome and familial hypercholesterolemia
Meng Qin, Panyu Luo, Xiaorong Wen, Jianwei Li
Journal of Clinical Lipidology.2022; 16(1): 33. CrossRef Nutrition and physical activity: An Obesity Medicine Association (OMA) Clinical Practice Statement 2022
Lydia Alexander, Sandra M. Christensen, Larry Richardson, Amy Beth Ingersoll, Karli Burridge, Angela Golden, Sara Karjoo, Danielle Cortez, Michael Shelver, Harold Edward Bays
Obesity Pillars.2022; 1: 100005. CrossRef Features of chinese patients with sitosterolemia
Zhizi Zhou, Xueying Su, Yanna Cai, Tzer Hwu Ting, Wen Zhang, Yunting Lin, Aijing Xu, Xiaojian Mao, Chunhua Zeng, Li Liu, Xiuzhen Li
Lipids in Health and Disease.2022;[Epub] CrossRef A teenager boy with a novel variant of Sitosterolemia presented with pancytopenia
Veysel Gok, Hayato Tada, Muhammet Ensar Dogan, Ummü Alakus Sari, Kübra Aslan, Alper Ozcan, Ebru Yilmaz, Fatih Kardas, Musa Karakukcu, Halit Canatan, Cigdem Karakukcu, Munis Dundar, Akihiro Inazu, Ekrem Unal
Clinica Chimica Acta.2022; 529: 61. CrossRef Nutraceuticals and Phytotherapy in Men's Health: Antioxidants, Pro-oxidants, and a Novel Opportunity for Lifestyle Changes
Mark A. Moyad
Urologic Clinics of North America.2022; 49(2): 239. CrossRef Sitosterolaemia identified due to peri-pregnancy rebound hypercholesterolaemia
Shreenidhi Ranganatha Subramaniam, Ivy Hoi Yee Ng, Diana Siao Cheng Han, Teresa Kam Chi Tsui
Pathology.2022; 54(7): 962. CrossRef Etiologic Puzzle of Coronary Artery Disease: How Important Is Genetic Component?
Lăcrămioara Ionela Butnariu, Laura Florea, Minerva Codruta Badescu, Elena Țarcă, Irina-Iuliana Costache, Eusebiu Vlad Gorduza
Life.2022; 12(6): 865. CrossRef
Screening of
ABCG5
and
ABCG8
Genes for Sitosterolemia in a Familial Hypercholesterolemia Cascade Screening Program
Mauricio Teruo Tada, Viviane Zorzanelli Rocha, Isabella Ramos Lima, Théo Gremen Mimary Oliveira, Ana Paula Chacra, Marcio Hiroshi Miname, Valéria Sutti Nunes, Edna Regina Nakandakare, Maria Helane Costa Gurgel Castelo, Cinthia Elim Jannes, Raul D. Santos,
Circulation: Genomic and Precision Medicine.2022;[Epub] CrossRef The Inherited Hypercholesterolemias
Wann Jia Loh, Gerald F. Watts
Endocrinology and Metabolism Clinics of North America.2022; 51(3): 511. CrossRef Foamy Cell Histiocytosis Is a Diagnostic Pitfall: A Case Report of Xanthomatosis Secondary to Sitosterolemia Mimicking Progressive Nodular Histiocytosis
Maria C. Garrido, María Penalba Torres, Lucía Garzón Lorenzo, Marco Gil, Carmen Palma Milla, Jose Luis Rodriguez-Peralto, Sara I. Palencia Pérez
The American Journal of Dermatopathology.2022; 44(10): 753. CrossRef Increased cholesterol absorption is associated with In-stent-restenosis after stent implantation for stable coronary artery disease
Sylvia Otto, Dieter Lütjohann, Anja Kerksiek, Silvia Friedrichs, Paul Christian Schulze, Sven Möbius-Winkler, Tudor C. Pörner, Oliver Weingärtner
Steroids.2022; 187: 109079. CrossRef Cerebrotendinous xanthomatosis in a 10-year-old male presenting with Achilles tendon xanthoma and mild intellectual disability: A case report
Ji Hye Yoon, Ka Young Kim, Sang-Yun Lee, Soo Yeon Kim, Young Ah Lee, Chang-Seok Ki, Junghan Song, Choong Ho Shin, Yun Jeong Lee
Journal of Genetic Medicine.2022; 19(1): 22. CrossRef Antioxidant activity of edible sprouts and phytosterol contents by HPLC/UV analysis
Juree Kim, Ji Hyun Kim, Se In Bang, Hanna Shin, Eun Ju Cho, Sanghyun Lee
Horticulture, Environment, and Biotechnology.2022; 63(5): 769. CrossRef Clinical and Genetic Analysis of a Family With Sitosterolemia Caused by a Novel ATP-Binding Cassette Subfamily G Member 5 Compound Heterozygous Mutation
Ming-fang Shen, Ya-nan Hu, Wei-xiang Chen, Li-sheng Liao, Min Wu, Qiu-yan Wu, Jian-hui Zhang, Yan-ping Zhang, Jie-wei Luo, Xin-fu Lin
Frontiers in Cardiovascular Medicine.2022;[Epub] CrossRef Homozygous familial hypercholesterolaemia in a patient presenting with hypertensive encephalopathy
Shadab B Maldar, Christopher Jude Pinto
BMJ Case Reports.2022; 15(10): e250265. CrossRef ABCG5 and ABCG8 gene variations associated with sitosterolemia and platelet dysfunction
Jose María Bastida, Rocío Benito, José Ramón González-Porras, José Rivera
Platelets.2021; 32(4): 573. CrossRef Sitosterolemia: Four Cases of an Uncommon Cause of Hemolytic Anemia (Mediterranean Stomatocytosis with Macrothrombocytopenia)
Sudhamsh Reddy Desai, Anu Korula, Uday Prakash Kulkarni, Aswathy Ashok Menon, Shaji V. Ramachandran, Eunice Sindhuvi, Arun Jose Nellickal, Sukesh C. Nair, Biju George
Indian Journal of Hematology and Blood Transfusion.2021; 37(1): 157. CrossRef Personalized medicine in lipid-modifying therapy
Brian Tomlinson, Chen-Hsiu Lin, Paul Chan, Christopher WK Lam
Personalized Medicine.2021; 18(2): 185. CrossRef Lipid profiling and dietary assessment of infant formulas reveal high intakes of major cholesterol oxidative product (7-ketocholesterol)
Alice Kilvington, Carlo Barnaba, Surender Rajasekaran, Mara L. Laurens Leimanis, Ilce G. Medina-Meza
Food Chemistry.2021; 354: 129529. CrossRef Seventeen years of misdiagnosis in rare dyslipidaemia: a case report of sitosterolaemia in a young female
Tanja Charlotte Frederiksen, Martin Bødtker Mortensen, Helle Lynge Kanstrup, Ching-Hui Sia, Vasilios Giampatzis, Constantino Mancusi, Daniel Tardo, Aiste Monika Jakstaite
European Heart Journal - Case Reports.2021;[Epub] CrossRef Extensive soft tissue xanthomatosis masquerading as tophaceous gout in a normolipidemic man
Michael Putman, Nathan Kong, Jon Lomasney, Neil J Stone, John Varga
Rheumatology.2021; 60(11): e381. CrossRef Beyond the Usual Suspects: Expanding on Mutations and Detection for Familial Hypercholesterolemia
Shirin Ibrahim, Joep C. Defesche, John J.P. Kastelein
Expert Review of Molecular Diagnostics.2021; 21(9): 887. CrossRef Premature Acute Myocardial Infarction in a Young Patient With Sitosterolemia
Yoshihiro Yamada, Keiki Sugi, Yodo Gatate, Takaaki Senbonmatsu, Ikuo Inoue, Kenji Fukushima, Atsushi Iguchi, Hiroyuki Nakajima, Toshihiro Muramatsu, Shintaro Nakano, Hayato Tada
CJC Open.2021; 3(8): 1085. CrossRef Achado Incomum de Rara e Exuberante Xantomatose em Caso de Hiperlipidemia
Enrico Manfredini, Renato Jorge Alves
Arquivos Brasileiros de Cardiologia.2021; 117(2): 407. CrossRef Phytosterols and Cardiovascular Disease
Umidakhon Makhmudova, P. Christian Schulze, Dieter Lütjohann, Oliver Weingärtner
Current Atherosclerosis Reports.2021;[Epub] CrossRef Case Studies in Pediatric Lipid Disorders and Their Management
Ambika P Ashraf, Bhuvana Sunil, Vaneeta Bamba, Emily Breidbart, Preneet Cheema Brar, Stephanie Chung, Anshu Gupta, Aditi Khokhar, Seema Kumar, Marissa Lightbourne, Manmohan K Kamboj, Ryan S Miller, Nivedita Patni, Vandana Raman, Amy S Shah, Don P Wilson,
The Journal of Clinical Endocrinology & Metabolism.2021; 106(12): 3605. CrossRef Remediation of ABCG5-Linked Macrothrombocytopenia With Ezetimibe Therapy
Libin Deng, Jingsong Xu, Wei Chen, Shicheng Guo, Robert D. Steiner, Qi Chen, Zhujun Cheng, Yanmei Xu, Bei Yao, Xiaoyan Li, Xiaozhong Wang, Keyu Deng, Steven J. Schrodi, Dake Zhang, Hongbo Xin
Frontiers in Genetics.2021;[Epub] CrossRef Reference Intervals of Serum Non-Cholesterol Sterols by Gender in Healthy Japanese Individuals
Hiroshi Yoshida, Hayato Tada, Kumie Ito, Yoshimi Kishimoto, Hidekatsu Yanai, Tomonori Okamura, Katsunori Ikewaki, Kyoko Inagaki, Tetsuo Shoji, Hideaki Bujo, Takashi Miida, Masayuki Yoshida, Masafumi Kuzuya, Shizuya Yamashita
Journal of Atherosclerosis and Thrombosis.2020; 27(5): 409. CrossRef Next-Generation Sequencing–Based Diagnosis of Unexplained Inherited Hemolytic Anemias Reveals Wide Genetic and Phenotypic Heterogeneity
Manu Jamwal, Anu Aggarwal, Arindam Palodhi, Prashant Sharma, Deepak Bansal, Amita Trehan, Pankaj Malhotra, Arindam Maitra, Reena Das
The Journal of Molecular Diagnostics.2020; 22(4): 579. CrossRef ABCG5 and ABCG8 genetic variants in familial hypercholesterolemia
Laurens F. Reeskamp, Andrea Volta, Linda Zuurbier, Joep C. Defesche, G. Kees Hovingh, Aldo Grefhorst
Journal of Clinical Lipidology.2020; 14(2): 207. CrossRef The value of physical signs in identifying patients with familial hypercholesterolemia in the era of genetic testing
Loukianos S. Rallidis, Dimitrios Iordanidis, Efstathios Iliodromitis
Journal of Cardiology.2020; 76(6): 568. CrossRef Dig deeper when it does not make sense: Juvenile xanthomas due to sitosterolemia
Sharmila Kiss, Joy Yaplito Lee, James Pitt, Duncan MacGregor, Jane Wallace, Melanie Marty, Natasha J. Brown
JIMD Reports.2020; 56(1): 34. CrossRef High prevalence of increased sitosterol levels in hypercholesterolemic children suggest underestimation of sitosterolemia incidence
Joon Hee Lee, Da Young Song, Sun-Hee Jun, Sang Hoon Song, Choong Ho Shin, Chang-Seok Ki, Kyunghoon Lee, Junghan Song, Paolo Magni
PLOS ONE.2020; 15(8): e0238079. CrossRef Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia
Nobuhiro Hashimoto, Sumito Dateki, Eri Suzuki, Takatoshi Tsuchihashi, Aiko Isobe, Sari Banno, Tomoka Kageyama, Naonori Maeda, Naomi Hatabu, Rieko Sato, Masashi Miharu, Hisayo Fujita, Osamu Komiyama, Hitomi Shimizu, Tomonobu Hasegawa, Kazuki Yamazawa
Human Genome Variation.2020;[Epub] CrossRef Whole exome sequencing for diagnosis of hereditary thrombocytopenia
Ponthip Mekchay, Chupong Ittiwut, Rungnapa Ittiwut, Benjaporn Akkawat, Supang Maneesri Le Grand, Netchanok Leela-adisorn, Suwanna Muanpetch, Weerapan Khovidhunkit, Darintr Sosothikul, Vorasuk Shotelersuk, Kanya Suphapeetiporn, Ponlapat Rojnuckarin
Medicine.2020; 99(47): e23275. CrossRef Recurrent tendosynovitis as a rare manifestation of a lipid disorder
Daniel Wadsack, Horst Sattler, Marcus E. Kleber, Katharina Eirich, Hubert Scharnagl, Günter Fauler, Winfried März, Tanja B. Grammer
Journal of Clinical Lipidology.2019; 13(1): 54. CrossRef Severe aortic valve stenosis in a 14-year-old boy with sitosterolemia
Yu Wang, Yuan-Lin Guo, Qiu-Ting Dong, Jian-Jun Li
Journal of Clinical Lipidology.2019; 13(1): 49. CrossRef Update on the diagnosis, treatment and management of rare genetic lipid disorders
David M. Ng, John R. Burnett, Damon A. Bell, Robert A. Hegele, Amanda J. Hooper
Pathology.2019; 51(2): 193. CrossRef Stigmasterol accumulation causes cardiac injury and promotes mortality
Caroline Tao, Artem A. Shkumatov, Shawn T. Alexander, Brandon L. Ason, Mingyue Zhou
Communications Biology.2019;[Epub] CrossRef Clinical features, molecular characteristics, and treatments of a Chinese girl with sitosterolemia: A case report and literature review
Xueying Su, Yongxian Shao, Yunting Lin, Xiaoyuan Zhao, Wen Zhang, Minyan Jiang, Yonglan Huang, Chunhua Zeng, Li Liu, Xiuzhen Li
Journal of Clinical Lipidology.2019; 13(2): 246. CrossRef Current status of familial hypercholesterolemia in Chinese populations
Brian Tomlinson, Miao Hu, Elaine Chow
Current Opinion in Lipidology.2019; 30(2): 94. CrossRef Inherited Platelet Disorders
Michele P. Lambert
Hematology/Oncology Clinics of North America.2019; 33(3): 471. CrossRef Clinical features and genetic analysis of childhood sitosterolemia
Dan Huang, Qiong Zhou, Yun-Qi Chao, Chao-Chun Zou
Medicine.2019; 98(15): e15013. CrossRef Sitosterolemia—10 years observation in two sisters
Lara Veit, Gabriella Allegri Machado, Céline Bürer, Oliver Speer, Johannes Häberle
JIMD Reports.2019; 48(1): 4. CrossRef Postmortem diagnosis of sitosterolaemia by next-generation sequencing in a patient with severe hypercholesterolaemia and cardiovascular failure
Yun Qiao, Minjie Xu, Zheng Yan, Qiang Liu, Wanjun Chen, Jianfei Xiong, Changqing Zhu, Xiaoye Lu
Atherosclerosis Supplements.2019; 39: 100010. CrossRef ABCG5/G8: a structural view to pathophysiology of the hepatobiliary cholesterol secretion
Aiman A. Zein, Rupinder Kaur, Toka O.K. Hussein, Gregory A. Graf, Jyh-Yeuan Lee
Biochemical Society Transactions.2019; 47(5): 1259. CrossRef Regulation of glucose and lipid metabolism in health and disease
Ligong Chen, Xiao-Wei Chen, Xun Huang, Bao-Liang Song, Yan Wang, Yiguo Wang
Science China Life Sciences.2019; 62(11): 1420. CrossRef Sitosterolemia: Diagnosis, Metabolic and Hematological Abnormalities, Cardiovascular Disease and Management
Jose María Bastida, María Luisa Girós, Rocío Benito, Kamila Janusz, Jesús María Hernández-Rivas, José Ramón González-Porras
Current Medicinal Chemistry.2019; 26(37): 6766. CrossRef Hereditary stomatocytosis: An underdiagnosed condition
Immacolata Andolfo, Roberta Russo, Antonella Gambale, Achille Iolascon
American Journal of Hematology.2018; 93(1): 107. CrossRef A case of sitosterolemia misdiagnosed as familial hypercholesterolemia: A 4-year follow-up
Wei Wang, Long Jiang, Pan-Pan Chen, Yue Wu, Peng-Yu Su, Lu-Ya Wang
Journal of Clinical Lipidology.2018; 12(1): 236. CrossRef Acute myocardial infarction in a 25-year-old woman with sitosterolemia
Ryuki Kawamura, Hitoshi Saiki, Hayato Tada, Akihiro Hata
Journal of Clinical Lipidology.2018; 12(1): 246. CrossRef Importance of genetic background of oxysterol signaling in cancer
P. Holy, A. Kloudova, P. Soucek
Biochimie.2018; 153: 109. CrossRef Recent advances in understanding liver fibrosis: bridging basic science and individualized treatment concepts
Ralf Weiskirchen, Sabine Weiskirchen, Frank Tacke
F1000Research.2018; 7: 921. CrossRef Thematic Review Series: Lipid Transfer Proteins ABCG5 and ABCG8: more than a defense against xenosterols
Shailendra B. Patel, Gregory A. Graf, Ryan E. Temel
Journal of Lipid Research.2018; 59(7): 1103. CrossRef Familial Hypercholesterolemia: New Horizons for Diagnosis and Effective Management
Maria Mytilinaiou, Ioannis Kyrou, Mike Khan, Dimitris K. Grammatopoulos, Harpal S. Randeva
Frontiers in Pharmacology.2018;[Epub] CrossRef Plasma Phytosterol Half‐Life and Levels Are Increased in Very Low Birth Weight Preterm Infants with Parenteral Nutrition‐Associated Cholestasis
Alessio Correani, Azzurra Pignotti, Luisita Marinelli, Chiara Biagetti, Rita D'Ascenzo, Luca Vedovelli, Giovanna Verlato, Paola Cogo, Marco B L Rocchi, Virgilio P Carnielli
Lipids.2018; 53(7): 717. CrossRef Two-year-old girl with tuberous xanthomas
Jose M Martin, Ana Cuesta, Rebeca Velasco, Ana Herrero, Dolores Ramon, Carlos Monteagudo
Journal of Clinical Pathology.2018; 71(10): 860. CrossRef Genotype‐phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients
Immacolata Andolfo, Roberta Russo, Barbara Eleni Rosato, Francesco Manna, Antonella Gambale, Carlo Brugnara, Achille Iolascon
American Journal of Hematology.2018; 93(12): 1509. CrossRef Familial Hypercholesterolemia: The Most Frequent Cholesterol Metabolism Disorder Caused Disease
Asier Benito-Vicente, Kepa Uribe, Shifa Jebari, Unai Galicia-Garcia, Helena Ostolaza, Cesar Martin
International Journal of Molecular Sciences.2018; 19(11): 3426. CrossRef Distribution of the ATP-binding cassette transporter ABCG8 IVS1-2A>G genotype and clinical characteristics of gallbladder patients in Northeastern Mexico: A pilot study
Pamela Frigerio, Ana Cepeda-Nieto, Selim Marcos-Morales, Abel Pe�a-Vel�zquez, Sergio D�vila-Flores, Mauricio Salinas-Santander
Biomedical Reports.2018;[Epub] CrossRef Familiäre Hypercholesterinämie – Diagnose und Therapie
Manuela Schöb, Pascal Müller, Yannick Gerth, Wolfgang Korte, Hans Rickli, Michael Brändle, Andreas Bärlocher, Stefan Bilz
Praxis.2018; 107(24): 1345. CrossRef Elevated Urinary Methylmalonic Acid/creatinine ratio and Serum Sterol levels in Patients with Acute Ischemic Stroke
Abdullah Sivrikaya, Serefnur Ozturk, Hakan Ekmekci, Aslıhan Sağlam, Sedat Abusoglu, Ali Unlu
Revista Romana de Medicina de Laborator.2018; 26(1): 51. CrossRef Clinical utility gene card for: Sitosterolaemia
Amanda J Hooper, Damon A Bell, Robert A Hegele, John R Burnett
European Journal of Human Genetics.2017; 25(4): 512. CrossRef Sitosterolemia: A multifaceted metabolic disorder with important clinical consequences
Eleftheria Tzavella, Eleftheria Hatzimichael, Christina Kostara, Eleni Bairaktari, Moses Elisaf, Vasilis Tsimihodimos
Journal of Clinical Lipidology.2017; 11(4): 1095. CrossRef Liver and the defects of cholesterol and bile acids biosynthesis: Rare disorders many diagnostic pitfalls
Gaetano Corso, Antonio Dello Russo, Monica Gelzo
World Journal of Gastroenterology.2017; 23(29): 5257. CrossRef ABC transporters in megakaryopoiesis and platelet activity
Wei Wang, Lorena Buitrago, Ying Wang
Thrombosis Research.2017; 156: 126. CrossRef Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia
Paola Sabrina Buonuomo, Lorenzo Iughetti, Livia Pisciotta, Claudio Rabacchi, Francesco Papadia, Patrizia Bruzzi, Albina Tummolo, Andrea Bartuli, Claudio Cortese, Stefano Bertolini, Sebastiano Calandra
Atherosclerosis.2017; 262: 71. CrossRef Integrative Medicine for Cardiovascular Disease and Prevention
Monica Aggarwal, Brooke Aggarwal, Jyothi Rao
Medical Clinics of North America.2017; 101(5): 895. CrossRef Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia
J.M. Bastida, R. Benito, K. Janusz, M. Díez‐Campelo, J.M. Hernández‐Sánchez, S. Marcellini, M. Girós, J. Rivera, M.L. Lozano, A. Hortal, J.M. Hernández‐Rivas, J.R. González‐Porras
Journal of Thrombosis and Haemostasis.2017; 15(9): 1859. CrossRef Ezetimibe: an update on its clinical usefulness in specific patient groups
Daniel Hammersley, Mark Signy
Therapeutic Advances in Chronic Disease.2017; 8(1): 4. CrossRef Quantitation of the rates of hepatic and intestinal cholesterol synthesis in lysosomal acid lipase-deficient mice before and during treatment with ezetimibe
Jen-Chieh Chuang, Adam M. Lopez, Stephen D. Turley
Biochemical Pharmacology.2017; 135: 116. CrossRef Carotid intima media thickness in a girl with sitosterolemia carrying a homozygous mutation in the ABCG5 gene
Hideaki Yagasaki, Takaya Nakane, Takako Toda, Kisho Kobayashi, Kouki Aoyama, Takeshi Ichikawa, Kanji Sugita
Journal of Pediatric Endocrinology and Metabolism.2017;[Epub] CrossRef Monogenetic disorders of the cholesterol metabolism and premature cardiovascular disease
Marianne C. van Schie, Sjaam Jainandunsing, Jeanine E. Roeters van Lennep
European Journal of Pharmacology.2017; 816: 146. CrossRef First report of Mediterranean stomatocytosis/macrothrombocytopenia in an Indian family: a diagnostic dilemma
Manu Jamwal, Anu Aggarwal, Arindam Maitra, Prashant Sharma, Deepak Bansal, Amita Trehan, Babu Ram Thapa, Pankaj Malhotra, Reena Das
Pathology.2017; 49(7): 811. CrossRef Xenosterolemia: emerging molecular and clinical insights
John Kane, Ernst Schaefer, Mary Malloy
Current Opinion in Lipidology.2017; 28(6): 518. CrossRef Recognition, diagnosis and treatment of homozygous familial hypercholesterolemia
Ezim Ajufo, Marina Cuchel
Expert Opinion on Orphan Drugs.2017; 5(12): 933. CrossRef
Heterozygous Null
LDLR
Mutation in a Familial Hypercholesterolemia Patient With an Atypical Presentation Because of Alcohol Abuse
Kamaldeep Panach, Abhimanyu Garg, Zahid Ahmad
Circulation: Cardiovascular Genetics.2017;[Epub] CrossRef
|