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Select item 108585891.

Cerebrotendinous Xanthomatosis patients with late diagnosed in single orthopedic clinic: two novel variants in the CYP27A1 gene

Muhammed Köroğlu, Mustafa Karakaplan, Enes Gündüz, Betül Kesriklioğlu, Emre Ergen, Okan Aslantürk, Zeynep Maraş Özdemir

Orphanet J Rare Dis. 2024; 19: 53. Published online 2024 Feb 9. doi: 10.1186/s13023-024-03082-4

PMCID:: PMC10858589

Article PDF–2.8M

Select item 104900882.

Pregnancy Cholesterol Metabolism Markers and the Risk of Gestational Diabetes Mellitus: A Nested Case-Control Study

Yan Li, Yuanjue Wu, Yanyan Ge, Shanshan Huang, Yang Yang, Zhen Zhang, Ningning Cui, Junan Yan, Yonggang Li, Ping Luo, Liping Hao, Guoping Xiong, Xuefeng Yang

Nutrients. 2023 Sep; 15(17): 3809. Published online 2023 Aug 31. doi: 10.3390/nu15173809

PMCID:: PMC10490088

Article PDF–994K

Select item 101860063.

Understanding common population markers for SARS-CoV-2 RNA normalization in wastewater – A review

Femi F. Oloye, Yuwei Xie, Jonathan K. Challis, Oluwabunmi P. Femi-Oloye, Markus Brinkmann, Kerry N. McPhedran, Paul D. Jones, Mark R. Servos, John P. Giesy

Chemosphere. 2023 Aug; 333: 138682. Published online 2023 May 16. doi: 10.1016/j.chemosphere.2023.138682

PMCID:: PMC10186006

Article PDF–2.6M

Select item 101266704.

A Rare Case of Cerebrotendinous Xanthomatosis Associated With a Mutation on COG8 Gene

Hamed Ghoshouni, Roham Sarmadian, Rana Irilouzadian, Habibe Nejad Biglari, Abolfazl Gilani

J Investig Med High Impact Case Rep. 2023 Jan-Dec; 11: 23247096231168109. Published online 2023 Apr 21. doi: 10.1177/23247096231168109

PMCID:: PMC10126670

Article PDF–493K

Select item 97492895.

Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts

Gorka Fernández-Eulate, Gilles C. Martin, Pascal Dureau, Claude Speeg-Spatz, Anais Brassier, Perrine Gillard, Dominique Bremond-Gignac, Dominique Thouvenin, Cecile Pagan, Foudil Lamari, Yann Nadjar

Orphanet J Rare Dis. 2022; 17: 434. Published online 2022 Dec 13. doi: 10.1186/s13023-022-02591-4

PMCID:: PMC9749289

Article PDF–928K

Select item 92298486.

Serum Phytosterols Are Not Associated with Inflammatory Markers in Two Cross-Sectional, Swiss Population-Based Studies (The CoLaus|PsyCoLaus Study)

Laura Stanasila, Pedro Marques-Vidal

Nutrients. 2022 Jun; 14(12): 2500. Published online 2022 Jun 16. doi: 10.3390/nu14122500

PMCID:: PMC9229848

Article PDF–4.8M

Select item 90305127.

Effects of Diet-Induced Weight Loss on Plasma Markers for Cholesterol Absorption and Synthesis: Secondary Analysis of a Randomized Trial in Abdominally Obese Men

Sultan Mashnafi, Jogchum Plat, Ronald P. Mensink, Peter J. Joris, Yvo H. A. M. Kusters, Alfons J. H. M. Houben, Coen D. A. Stehouwer, Casper G. Schalkwijk, Sabine Baumgartner

Nutrients. 2022 Apr; 14(8): 1546. Published online 2022 Apr 8. doi: 10.3390/nu14081546

PMCID:: PMC9030512

Article PDF–552K

Select item 84206698.

Cerebrotendinous xanthomatosis with radiological abnormalities of the chest

Yoshiaki Zaizen, Masaki Tominaga, Shuji Nagata, Tomoaki Hoshino

BMJ Case Rep. 2021; 14(9): e243715. Published online 2021 Sep 3. doi: 10.1136/bcr-2021-243715

PMCID:: PMC8420669

Article PDF–1.1M

Select item 83490769.

Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi study

Bianca M. L. Stelten, Maria Teresa Dotti, Aad Verrips, Bülent Elibol, Tzipora C. Falik-Zaccai, Kate Hanman, Andrea Mignarri, Belina Sithole, Robert D. Steiner, Surabhi Verma, Gilad Yahalom, Tanyel Zubarioglu, Fanny Mochel, Antonio Federico

Orphanet J Rare Dis. 2021; 16: 353. Published online 2021 Aug 6. doi: 10.1186/s13023-021-01980-5

PMCID:: PMC8349076

Article PDF–1.0M

Select item 794913110.

A lipid-anchored neurokinin 1 receptor antagonist prolongs pain relief by a three-pronged mechanism of action targeting the receptor at the plasma membrane and in endosomes

Quynh N. Mai, Priyank Shenoy, Tim Quach, Jeffri S. Retamal, Arisbel B. Gondin, Holly R. Yeatman, Luigi Aurelio, Joshua W. Conner, Daniel P. Poole, Meritxell Canals, Cameron J. Nowell, Bim Graham, Thomas P. Davis, Stephen J. Briddon, Stephen J. Hill, Christopher J.H. Porter, Nigel W. Bunnett, Michelle L. Halls, Nicholas A. Veldhuis

J Biol Chem. 2021 Jan-Jun; 296: 100345. Published online 2021 Jan 28. doi: 10.1016/j.jbc.2021.100345

PMCID:: PMC7949131

Article PDF–3.9M

Select item 766204311.

A Late-onset and Relatively Rapidly Progressive Case of Pure Spinal Form Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene

Ken Takasone, Teruya Morizumi, Katsuya Nakamura, Yusuke Mochizuki, Tsuneaki Yoshinaga, Shingo Koyama, Yoshiki Sekijima

Intern Med. 2020 Oct 15; 59(20): 2587–2591. Published online 2020 Jun 23. doi: 10.2169/internalmedicine.5037-20

PMCID:: PMC7662043

Article PDF–943K

Select item 758805312.

Cholesterol oxidase from Rhodococcus erythropolis with high specificity toward β-cholestanol and pytosterols

Noriyuki Doukyu, Makoto Ishikawa

PLoS One. 2020; 15(10): e0241126. Published online 2020 Oct 26. doi: 10.1371/journal.pone.0241126

PMCID:: PMC7588053

Article PDF–1018K

Select item 754786213.

An Optimized NMR Stripline for Sensitive Supercritical Fluid Chromatography-Nuclear Magnetic Resonance of Microliter Sample Volumes

Sebastiaan van Meerten, Fleur van Zelst, Koen Tijssen, Arno Kentgens

Anal Chem. 2020 Oct 6; 92(19): 13010–13016. Published online 2020 Aug 31. doi: 10.1021/acs.analchem.0c01827

PMCID:: PMC7547862

Article PDF–2.4M

Select item 750444914.

Ambrafuran (Ambrox^TM) Synthesis from Natural Plant Product Precursors

Efficient N. Ncube, Lucia Steenkamp, Ian A. Dubery

Molecules. 2020 Sep; 25(17): 3851. Published online 2020 Aug 25. doi: 10.3390/molecules25173851

PMCID:: PMC7504449

Article PDF–4.9M

Select item 743568815.

Cholesterol Metabolism by Uncultured Human Gut Bacteria Influences Host Cholesterol Level

Douglas J. Kenny, Damian R. Plichta, Dmitry Shungin, Nitzan Koppel, A. Brantley Hall, Beverly Fu, Ramachandran S. Vasan, Stanley Y. Shaw, Hera Vlamakis, Emily P. Balskus, Ramnik J. Xavier

Cell Host Microbe. 2020 Aug 12; 28(2): 245–257.e6. doi: 10.1016/j.chom.2020.05.013

PMCID:: PMC7435688

Article

Select item 716007616.

The safety and effectiveness of chenodeoxycholic acid treatment in patients with cerebrotendinous xanthomatosis: two retrospective cohort studies

Aad Verrips, Maria Teresa Dotti, Andrea Mignarri, Bianca M. L. Stelten, Sue Verma, Antonio Federico

Neurol Sci. 2020; 41(4): 943–949. Published online 2019 Dec 20. doi: 10.1007/s10072-019-04169-8

PMCID:: PMC7160076

Article PDF–498K

Select item 710694617.

General Base Swap Preserves Activity and Expands Substrate Tolerance in Hedgehog Autoprocessing

Jing Zhao, Daniel A. Ciulla, Jian Xie, Andrew G. Wagner, Drew A. Castillo, Allison S. Zwarycz, Zhongqian Lin, Seth Beadle, José-Luis Giner, Zhong Li, Hongmin Li, Nilesh Banavali, Brian P. Callahan, Chunyu Wang

J Am Chem Soc. Author manuscript; available in PMC 2020 Nov 20.

Published in final edited form as: J Am Chem Soc. 2019 Nov 20; 141(46): 18380–18384. Published online 2019 Nov 7. doi: 10.1021/jacs.9b08914

PMCID:: PMC7106946

Article PDF–1.1M

Select item 703434218.

Milk polar lipids reduce lipid cardiovascular risk factors in overweight postmenopausal women: towards a gut sphingomyelin-cholesterol interplay

Cécile Vors, Laurie Joumard-Cubizolles, Manon Lecomte, Emmanuel Combe, Lemlih Ouchchane, Jocelyne Drai, Ketsia Raynal, Florent Joffre, Laure Meiller, Mélanie Le Barz, Patrice Gaborit, Aurélie Caille, Monique Sothier, Carla Domingues-Faria, Adeline Blot, Aurélie Wauquier, Emilie Blond, Valérie Sauvinet, Geneviève Gésan-Guiziou, Jean-Pierre Bodin, Philippe Moulin, David Cheillan, Hubert Vidal, Béatrice Morio, Eddy Cotte, Françoise Morel-Laporte, Martine Laville, Annick Bernalier-Donadille, Stéphanie Lambert-Porcheron, Corinne Malpuech-Brugère, Marie-Caroline Michalski

Gut. 2020 Mar; 69(3): 487–501. Published online 2019 Jun 12. doi: 10.1136/gutjnl-2018-318155

PMCID:: PMC7034342

Article PDF–3.4M

Select item 693765819.

Monica Gelzo, Maria Donata Di Taranto, Concetta Sica, Antonio Boscia, Francesco Papagni, Giuliana Fortunato, Gaetano Corso, Antonio Dello Russo

Lipids Health Dis. 2019; 18: 235. Published online 2019 Dec 30. doi: 10.1186/s12944-019-1176-3

PMCID:: PMC6937658

Article PDF–660K

Select item 692897320.

Methyl Ether-Derivatized Sterols and Coprostanol Produced via Thermochemolysis Using Tetramethylammonium Hydroxide (TMAH)

Masatoshi Nakakuni, Yoshimi Yamasaki, Nonoka Yoshitake, Keiko Takehara, Shuichi Yamamoto

Molecules. 2019 Nov; 24(22): 4040. Published online 2019 Nov 7. doi: 10.3390/molecules24224040

PMCID:: PMC6928973

Article PDF–2.6M

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