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For: Haas D, Gan-Schreier H, Langhans CD, Rohrer T, Engelmann G, Heverin M, Russell DW, Clayton PT, Hoffmann GF, Okun JG. Differential diagnosis in patients with suspected bile acid synthesis defects. World J Gastroenterol 2012; 18(10): 1067-1076 [PMID: 22416181 DOI: 10.3748/wjg.v18.i10.1067]
URL: https://www.wjgnet.com/1007-9327/full/v18/i10/1067.htm
Number Citing Articles
1
Dhevalapally B. Ramachary, Rajasekar Sakthidevi, P. Srinivasa Reddy. Direct organocatalytic stereoselective transfer hydrogenation of conjugated olefins of steroidsRSC Advances 2013; 3(32): 13497 doi: 10.1039/c3ra41519h
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Fatemeh Elham Mahjoub, Farzaneh Motamed, Nakisa Niknejad, Fatemeh Farahmand, Fatemeh Hadipour, Pooria Asili. Bile Acid Synthesis Disorder, the First Reported Case from Iran, (Proven by Genetic Study), How the Unavailability of Drug Affected the Course of TreatmentIranian Journal of Pediatrics 2023; 33(3) doi: 10.5812/ijp-133741
3
Kejun Zhou, Jun Wang, Guoxiang Xie, Ying Zhou, Weihui Yan, Weihua Pan, Yanran Che, Ting Zhang, Linda Wong, Sandi Kwee, Yongtao Xiao, Jie Wen, Wei Cai, Wei Jia. Distinct Plasma Bile Acid Profiles of Biliary Atresia and Neonatal Hepatitis SyndromeJournal of Proteome Research 2015; 14(11): 4844 doi: 10.1021/acs.jproteome.5b00676
4
Femke C. C. Klouwer, Bart G. P. Koot, Kevin Berendse, Elles M. Kemper, Sacha Ferdinandusse, Kiran V. K. Koelfat, Martin Lenicek, Frédéric M. Vaz, Marc Engelen, Peter L. M. Jansen, Ronald J. A. Wanders, Hans R. Waterham, Frank G. Schaap, Bwee Tien Poll-The. The cholic acid extension study in Zellweger spectrum disorders: results and implications for therapyJournal of Inherited Metabolic Disease 2018;  doi: 10.1007/s10545-018-0194-z
5
Tadahiro Yanagi, Tatsuki Mizuochi, Keiko Homma, Isao Ueki, Yoshitaka Seki, Tomonobu Hasegawa, Hajime Takei, Hiroshi Nittono, Takao Kurosawa, Toyojiro Matsuishi, Akihiko Kimura. Distinguishing primary from secondary Δ4‐3‐oxosteroid 5β‐reductase (SRD5B1, AKR1D1) deficiency by urinary steroid analysisClinical Endocrinology 2015; 82(3): 346 doi: 10.1111/cen.12596
6
Tsuyoshi Murai, Kana Oda, Terutake Toyo, Hiroshi Nittono, Hajime Takei, Akina Muto, Akihiko Kimura, Takao Kurosawa. Determination of 3β-hydroxy-Δ5-bile acids and related compounds in biological fluids of patients with cholestasis by liquid chromatography–tandem mass spectrometryJournal of Chromatography B 2013; : 120 doi: 10.1016/j.jchromb.2013.02.003
7
Li Jiao, Hongying Gan-Schreier, Sabine Tuma-Kellner, Wolfgang Stremmel, Walee Chamulitrat. Sensitization to autoimmune hepatitis in group VIA calcium-independent phospholipase A2-null mice led to duodenal villous atrophy with apoptosis, goblet cell hyperplasia and leaked bile acidsBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 2015; 1852(8): 1646 doi: 10.1016/j.bbadis.2015.04.025
8
Andrea E. DeBarber, Jenny Luo, Michal Star-Weinstock, Subhasish Purkayastha, Michael T. Geraghty, John (Pei-Wen) Chiang, Louise S. Merkens, Anuradha S. Pappu, Robert D. Steiner. A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newbornsJournal of Lipid Research 2014; 55(1): 146 doi: 10.1194/jlr.P043273
9
Tingting Yang, Ghulam Jilany Khan, Ziteng Wu, Xue Wang, Luyong Zhang, Zhenzhou Jiang. Bile acid homeostasis paradigm and its connotation with cholestatic liver diseasesDrug Discovery Today 2019; 24(1): 112 doi: 10.1016/j.drudis.2018.09.007
10
Femke C. C. Klouwer, Bart G. P. Koot, Kevin Berendse, Elles M. Kemper, Sacha Ferdinandusse, Kiran V. K. Koelfat, Martin Lenicek, Frédéric M. Vaz, Marc Engelen, Peter L. M. Jansen, Ronald J. A. Wanders, Hans R. Waterham, Frank G. Schaap, Bwee Tien Poll‐The. The cholic acid extension study in Zellweger spectrum disorders: Results and implications for therapyJournal of Inherited Metabolic Disease 2019; 42(2): 303 doi: 10.1002/jimd.12042
11
Alberto Quaglia, Eve A. Roberts, Michael Torbenson. MacSween's Pathology of the Liver2024; : 122 doi: 10.1016/B978-0-7020-8228-3.00003-X
12
Kenneth D.R. Setchell, James E. Heubi, Sohela Shah, Joel E. Lavine, David Suskind, Mohammed Al–Edreesi, Carol Potter, David W. Russell, Nancy C. O'Connell, Brian Wolfe, Pinky Jha, Wujuan Zhang, Kevin E. Bove, Alex S. Knisely, Alan F. Hofmann, Philip Rosenthal, Laura N. Bull. Genetic Defects in Bile Acid Conjugation Cause Fat-Soluble Vitamin DeficiencyGastroenterology 2013; 144(5): 945 doi: 10.1053/j.gastro.2013.02.004
13
Kenneth D.R. Setchell, James E. Heubi. Liver Disease in Children2021; : 593 doi: 10.1017/9781108918978.033
14
Tatsuki Mizuochi, Ken-ichiro Konishi. Introduction to Biliary Atresia2021; : 107 doi: 10.1007/978-981-16-2160-4_17
15
Si Mi, David W. Lim, Justine M. Turner, Paul W. Wales, Jonathan M. Curtis. Determination of Bile Acids in Piglet Bile by Solid Phase Extraction and Liquid Chromatography‐Electrospray Tandem Mass SpectrometryLipids 2016; 51(3): 359 doi: 10.1007/s11745-016-4125-1
16
Joanne E Adaway, Brian G Keevil, Laura J Owen. Liquid chromatography tandem mass spectrometry in the clinical laboratoryAnnals of Clinical Biochemistry: International Journal of Laboratory Medicine 2015; 52(1): 18 doi: 10.1177/0004563214557678
17
H.U. Marschall. Angeborene Stoffwechselkrankheiten bei Erwachsenen2014; : 369 doi: 10.1007/978-3-642-45188-1_41
18
Kejun Zhou, Na Lin, Yongtao Xiao, Yang Wang, Jie Wen, Gang-Ming Zou, XueFan Gu, Wei Cai, Rossella Rota. Elevated Bile Acids in Newborns with Biliary Atresia (BA)PLoS ONE 2012; 7(11): e49270 doi: 10.1371/journal.pone.0049270
19
Kenneth D. R. Setchell. Liver Disease in Children2014; : 567 doi: 10.1017/CBO9781139012102.034
20
Rodrigo Mariano Ribeiro, Sophia Costa Vasconcelos, Pedro Lucas Grangeiro de Sá Barreto Lima, Emanuel Ferreira Coelho, Anna Melissa Noronha Oliveira, Emanuel de Assis Bertulino Martins Gomes, Luciano de Albuquerque Mota, Lucas Soares Radtke, Matheus dos Santos Carvalho, David Augusto Batista Sá Araújo, Maria Suelly Nogueira Pinheiro, Vitor Carneiro de Vasconcelos Gama, Renan Magalhães Montenegro Júnior, Pedro Braga Neto, Paulo Ribeiro Nóbrega. Pathophysiology and Treatment of Lipid Abnormalities in Cerebrotendinous Xanthomatosis: An Integrative ReviewBrain Sciences 2023; 13(7): 979 doi: 10.3390/brainsci13070979
21
Elena Donazzolo, Antonina Gucciardi, Daniela Mazzier, Cristina Peggion, Paola Pirillo, Mauro Naturale, Alessandro Moretto, Giuseppe Giordano. Improved synthesis of glycine, taurine and sulfate conjugated bile acids as reference compounds and internal standards for ESI–MS/MS urinary profiling of inborn errors of bile acid synthesisChemistry and Physics of Lipids 2017; 204: 43 doi: 10.1016/j.chemphyslip.2017.03.004
22
Wujuan Zhang, Pinky Jha, Brian Wolfe, Antimo Gioiello, Roberto Pellicciari, Jianshe Wang, James Heubi, Kenneth D R Setchell. Tandem Mass Spectrometric Determination of Atypical 3β-Hydroxy-Δ5-Bile Acids in Patients with 3β-Hydroxy-Δ5-C27-Steroid Oxidoreductase Deficiency: Application to Diagnosis and Monitoring of Bile Acid Therapeutic ResponseClinical Chemistry 2015; 61(7): 955 doi: 10.1373/clinchem.2015.238238
23
William F. Balistreri. Growth and development of a new subspecialty: Pediatric hepatologyHepatology 2013; 58(2): 458 doi: 10.1002/hep.26580
24
Alberto Quaglia, Eve A. Roberts, Michael Torbenson. Macsween's Pathology of the Liver2018; : 111 doi: 10.1016/B978-0-7020-6697-9.00003-0
25
Robert H. Squires, Vicky Ng, Rene Romero, Udeme Ekong, Winita Hardikar, Sukru Emre, George V. Mazariegos. Evaluation of the pediatric patient for liver transplantation: 2014 practice guideline by the american association for the study of liver diseases, american society of transplantation and the north american society for pediatric gastroenterology, hepatoloHepatology 2014; 60(1): 362 doi: 10.1002/hep.27191
26
Hadley J. Pearson, Joy L. Mosser, Stephanie K. Jacks. The triad of pruritus, xanthomas, and cholestasis: Two cases and a brief review of the literaturePediatric Dermatology 2017; 34(6) doi: 10.1111/pde.13306
27
Warda Darwisch, Marino von Spangenberg, Jana Lehmann, Öznur Singin, Geralt Deubert, Sandra Kühl, Johannes Roos, Heinz Horstmann, Christoph Körber, Simone Hoppe, Hongwei Zheng, Thomas Kuner, Mia L. Pras-Raves, Antoine H. C. van Kampen, Hans R. Waterham, Kathrin V. Schwarz, Jürgen G. Okun, Christian Schultz, Frédéric M. Vaz, Markus Islinger. Cerebellar and hepatic alterations in ACBD5-deficient mice are associated with unexpected, distinct alterations in cellular lipid homeostasisCommunications Biology 2020; 3(1) doi: 10.1038/s42003-020-01442-x
28
Sharon F. Freedman, Charlotte Brennand, John Chiang, Andrea DeBarber, Monte A. Del Monte, P. Barton Duell, John Fiorito, Randall Marshall. Prevalence of Cerebrotendinous Xanthomatosis Among Patients Diagnosed With Acquired Juvenile-Onset Idiopathic Bilateral CataractsJAMA Ophthalmology 2019; 137(11): 1312 doi: 10.1001/jamaophthalmol.2019.3639
29
Abdulrahman A. Al-Hussaini, Kenneth D.R. Setchell, Badr AlSaleem, James E. Heubi, Khurram Lone, Anne Davit-Spraul, Emmanuel Jacquemin. Bile Acid Synthesis Disorders in Arabs: A 10-year Screening StudyJournal of Pediatric Gastroenterology & Nutrition 2017; 65(6): 613 doi: 10.1097/MPG.0000000000001734
30
Payal Jaywant Vaidya, Sumit Ashok Kumbhalwar, Makarand Jaywant Vaidya. A Study of Obstetric Intrahepatic Cholestasis and Its Maternal and Perinatal Outcome at a Tertiary Care Hospital in NagpurJournal of Evidence Based Medicine and Healthcare 2021; 8(37): 3323 doi: 10.18410/jebmh/2021/603
31
Maria J. Monte, Marta Alonso-Peña, Oscar Briz, Elisa Herraez, Carmen Berasain, Josepmaria Argemi, Jesus Prieto, Jose J.G. Marin. ACOX2 deficiency: An inborn error of bile acid synthesis identified in an adolescent with persistent hypertransaminasemiaJournal of Hepatology 2017; 66(3): 581 doi: 10.1016/j.jhep.2016.11.005
32
Yaja Jebaying, Karunesh Kumar, Smita Malhotra, Anupam Sibal. Novel mutation in the HSD3B7 gene causes bile acid synthetic disorder and presents as recurrent liver failure in early childhoodBMJ Case Reports 2023; 16(2): e245852 doi: 10.1136/bcr-2021-245852
33
Sinan Eliaçık, Gülsüm Çil. Case of cerebrotendinous xanthomatosis with giant xanthomas and literature reviewThe Egyptian Journal of Neurology, Psychiatry and Neurosurgery 2023; 59(1) doi: 10.1186/s41983-023-00644-4
34
Kenneth D.R. Setchell, Rohit Kohli. Zakim and Boyer's Hepatology2018; : 20 doi: 10.1016/B978-0-323-37591-7.00002-1
35
Joep L. A. Claesen, Erik Koomen, Imre F. Schene, Judith J. M. Jans, Natalia Mast, Irina A. Pikuleva, Maria van der Ham, Monique G. M. de Sain‐van der Velden, Sabine A. Fuchs. Misdiagnosis of CTX due to propofol: The interference of total intravenous propofol anaesthesia with bile acid profilingJournal of Inherited Metabolic Disease 2020; 43(4): 843 doi: 10.1002/jimd.12219