Research & Literature

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 response.

Zhang W, Jha P, Wolfe B, et al.

Clinical chemistry 2015; (61(7)):955-63 doi:10.1373/clinchem.2015.238238.

De novo Choledocholithiasis in Retained Common Bile Duct Stent.

Upwanshi MH, Shaikh ST, Ghetla SR, Shetty TS

Journal of clinical and diagnostic research : JCDR 2015; (9(9)):PD17-8 doi:10.7860/JCDR/2015/13889.6478.

Diurnal variation in cholesterol 7α-hydroxylase activity is determined by the -203A>C polymorphism of the CYP7A1 gene.

Vlachova M, Blahova T, Lanska V, et al.

Croatian medical journal 2016; (57(2)):111-7 doi:10.3325/cmj.2016.57.111.

The supportive care needs of parents with a child with a rare disease: results of an online survey.

Pelentsov LJ, Fielder AL, Laws TA, Esterman AJ

BMC family practice 2016; (17()):88 doi:10.1186/s12875-016-0488-x.

Cholic acid therapy in Zellweger spectrum disorders.

Berendse K, Klouwer FC, Koot BG, et al.

Journal of inherited metabolic disease 2016; (39(6)):859-868 doi:10.1007/s10545-016-9962-9.

Lipid Screening in Childhood and Adolescence for Detection of Familial Hypercholesterolemia: Evidence Report and Systematic Review for the US Preventive Services Task Force.

Lozano P, Henrikson NB, Dunn J, et al.

JAMA 2016; (316(6)):645-55 doi:10.1001/jama.2016.6176.

The effect of colesevelam treatment on bile acid and lipid metabolism and glycemic control in healthy men.

Blahová T, Peterková L, Leníček M, et al.

Physiological research 2016; (65(6)):995-1003 doi:10.33549/physiolres.933276.

Association Between Lowering LDL-C and Cardiovascular Risk Reduction Among Different Therapeutic Interventions: A Systematic Review and Meta-analysis.

Silverman MG, Ference BA, Im K, et al.

JAMA 2016; (316(12)):1289-97 doi:10.1001/jama.2016.13985.

Parents' experiences of living with, and caring for children, adolescents and young adults with Mucopolysaccharidosis (MPS).

Somanadhan S, Larkin PJ

Orphanet journal of rare diseases 2016; (11(1)):138 doi:10.1186/s13023-016-0521-0.

Hepatic deletion of X-box binding protein 1 impairs bile acid metabolism in mice.

Liu X, Henkel AS, LeCuyer BE, et al.

Journal of lipid research 2017; (58(3)):504-511 doi:10.1194/jlr.M071266.

Hyperlipidemia: Drugs for Cardiovascular Risk Reduction in Adults.

Last AR, Ference JD, Menzel ER

American family physician 2017; (95(2)):78-87.

Treatment with the natural FXR agonist chenodeoxycholic acid reduces clearance of plasma LDL whilst decreasing circulating PCSK9, lipoprotein(a) and apolipoprotein C-III.

Ghosh Laskar M, Eriksson M, Rudling M, Angelin B

Journal of internal medicine 2017; (281(6)):575-585 doi:10.1111/joim.12594.

Thyroid hormones: a potential ally to LDL-cholesterol-lowering agents.

Duntas LH, Brenta G

Hormones (Athens, Greece) 2016; (15(4)):500-510 doi:10.14310/horm.2002.1707.

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 synthesis.

Donazzolo E, Gucciardi A, Mazzier D, et al.

Chemistry and physics of lipids 2017; (204()):43-56 doi:10.1016/j.chemphyslip.2017.03.004.

Bile acid analysis in human disorders of bile acid biosynthesis.

Vaz FM, Ferdinandusse S

Molecular aspects of medicine 2017; (56()):10-24 doi:10.1016/j.mam.2017.03.003.

Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays.

Zurynski Y, Deverell M, Dalkeith T, et al.

Orphanet journal of rare diseases 2017; (12(1)):68 doi:10.1186/s13023-017-0622-4.

Genetic Architecture of Familial Hypercholesterolaemia.

Sharifi M, Futema M, Nair D, Humphries SE

Current cardiology reports 2017; (19(5)):44 doi:10.1007/s11886-017-0848-8.

Statins for children with familial hypercholesterolemia.

Vuorio A, Kuoppala J, Kovanen PT, et al.

The Cochrane database of systematic reviews 2017; (7()):CD006401 doi:10.1002/14651858.CD006401.pub4.

2017 Focused Update of the 2016 ACC Expert Consensus Decision Pathway on the Role of Non-Statin Therapies for LDL-Cholesterol Lowering in the Management of Atherosclerotic Cardiovascular Disease Risk: A Report of the American College of Cardiology Task Force on Expert Consensus Decision Pathways.

Lloyd-Jones DM, Morris PB, Ballantyne CM, et al.

Journal of the American College of Cardiology 2017; (70(14)):1785-1822 doi:10.1016/j.jacc.2017.07.745.

Bile Acid Synthesis Disorders in Arabs: A 10-year Screening Study.

Al-Hussaini AA, Setchell KDR, AlSaleem B, et al.

Journal of pediatric gastroenterology and nutrition 2017; (65(6)):613-620 doi:10.1097/MPG.0000000000001734.

LC-MS/MS quantification of 7α-hydroxy-4-cholesten-3-one (C4) in rat and monkey plasma.

Kang L, Connolly TM, Weng N, Jian W

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 2017; (1064()):49-55 doi:10.1016/j.jchromb.2017.09.006.

Description of analytical method and clinical utility of measuring serum 7-alpha-hydroxy-4-cholesten-3-one (7aC4) by mass spectrometry.

Donato LJ, Lueke A, Kenyon SM, et al.

Clinical biochemistry 2018; (52()):106-111 doi:10.1016/j.clinbiochem.2017.10.008.

Gallbladder Dysfunction: Cholecystitis, Choledocholithiasis, Cholangitis, and Biliary Dyskinesia.

Wilkins T, Agabin E, Varghese J, Talukder A

Primary care 2017; (44(4)):575-597 doi:10.1016/j.pop.2017.07.002.

Recurrent Primary Suprahepatic Abscess Due to Providencia Stuartii: A Rare Phenomenon.

Lin K, Lin AN, Linn S, et al.

Cureus 2017; (9(9)):e1691 doi:10.7759/cureus.1691.

[Familial combined hyperlipidemia - the most common genetic dyslipidemia in population and in patients with premature atherothrombotic cardiovascular disease].

Vaverková H, Karásek D

Vnitrni lekarstvi 2018; (64(1)):25-29.

Genetic variants in CYP7A1 and risk of myocardial infarction and symptomatic gallstone disease.

Qayyum F, Lauridsen BK, Frikke-Schmidt R, et al.

European heart journal 2018; (39(22)):2106-2116 doi:10.1093/eurheartj/ehy068.

Coronary computed tomographic angiography findings and their therapeutic implications in asymptomatic patients with familial hypercholesterolemia. Lessons from the SAFEHEART study.

Pérez de Isla L, Alonso R, Muñiz-Grijalvo O, et al.

Journal of clinical lipidology 2018; (12(4)):948-957 doi:10.1016/j.jacl.2018.04.003.

Guidelines for Diagnosis and Treatment of Familial Hypercholesterolemia 2017.

Harada-Shiba M, Arai H, Ishigaki Y, et al.

Journal of atherosclerosis and thrombosis 2018; (25(8)):751-770 doi:10.5551/jat.CR003.

Predictive Factors for Choledocholithiasis in Symptomatic Gallstone Patients.

Viriyaroj V, Rookkachart T

Journal of the Medical Association of Thailand = Chotmaihet thangphaet 2016; (99 Suppl 8()):S112-S117.

Familial Chylomicronemia Syndrome: A Clinical Guide For Endocrinologists.

Falko JM

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2018; (24(8)):756-763 doi:10.4158/EP-2018-0157.

Δ4-3-oxosteroid-5β-reductase deficiency: Responses to oral bile acid therapy and long-term outcomes.

Zhang MH, Setchell KD, Zhao J, et al.

World journal of gastroenterology 2019; (25(7)):859-869 doi:10.3748/wjg.v25.i7.859.

Acute myocardial infarction and transient elevated anticardiolipin antibody in a young adult with possible familial hypercholesterolemia: a case report : Anticardiolipin antibody and myocardial infarction.

Su X, Wang A, Zhu H, et al.

BMC cardiovascular disorders 2019; (19(1)):156 doi:10.1186/s12872-019-1135-y.

AKR1D1 and CYP7B1 mutations in patients with inborn errors of bile acid metabolism: Possibly underdiagnosed diseases.

Chen JY, Wu JF, Kimura A, et al.

Pediatrics and neonatology 2020; (61(1)):75-83 doi:10.1016/j.pedneo.2019.06.009.

Bile acid-based therapies for non-alcoholic steatohepatitis and alcoholic liver disease.

Li T, Chiang JYL

Hepatobiliary surgery and nutrition 2020; (9(2)):152-169 doi:10.21037/hbsn.2019.09.03.

Novel therapies for familial hypercholesterolemia.

Mohamed F, Seedat F, Raal FJ

Current opinion in endocrinology, diabetes, and obesity 2021; (28(2)):188-195 doi:10.1097/MED.0000000000000590.

Acute Chest Pain in Adults: Outpatient Evaluation.

McConaghy JR, Sharma M, Patel H

American family physician 2020; (102(12)):721-727.

Bile Acid Synthesis Disorders in Japan: Long-Term Outcome and Chenodeoxycholic Acid Treatment.

Kimura A, Mizuochi T, Takei H, et al.

Digestive diseases and sciences 2021; (66(11)):3885-3892 doi:10.1007/s10620-020-06722-4.

New cardiovascular prevention guidelines: How to optimally manage dyslipidaemia and cardiovascular risk in 2021 in patients needing secondary prevention?

Atar D, Jukema JW, Molemans B, et al.

Atherosclerosis 2021; (319()):51-61 doi:10.1016/j.atherosclerosis.2020.12.013.

Homozygous Familial Hypercholesterolemia.

Nohara A, Tada H, Ogura M, et al.

Journal of atherosclerosis and thrombosis 2021; (28(7)):665-678 doi:10.5551/jat.RV17050.

The Added Value of Coronary Calcium Score in Predicting Cardiovascular Events in Familial Hypercholesterolemia.

Gallo A, Pérez de Isla L, Charrière S, et al.

JACC. Cardiovascular imaging 2021; (14(12)):2414-2424 doi:10.1016/j.jcmg.2021.06.011.

Up to date on cholesterol 7 alpha-hydroxylase (CYP7A1) in bile acid synthesis.

Chiang JYL, Ferrell JM

Liver research (Beijing, China) 2020; (4(2)):47-63 doi:10.1016/j.livres.2020.05.001.

Familial Hypercholesterolemia: Global Burden and Approaches.

Tokgozoglu L, Kayikcioglu M

Current cardiology reports 2021; (23(10)):151 doi:10.1007/s11886-021-01565-5.

A Modern Approach to Dyslipidemia.

Berberich AJ, Hegele RA

Endocrine reviews 2022; (43(4)):611-653 doi:10.1210/endrev/bnab037.

Modulation of Bile Acid Metabolism to Improve Plasma Lipid and Lipoprotein Profiles.

Zhang B, Kuipers F, de Boer JF, Kuivenhoven JA

Journal of clinical medicine 2021; (11(1)) doi:10.3390/jcm11010004.

Discovery of farnesoid X receptor and its role in bile acid metabolism.

Chiang JYL, Ferrell JM

Molecular and cellular endocrinology 2022; (548()):111618 doi:10.1016/j.mce.2022.111618.

Multidisciplinary Care of Patients with Inherited Metabolic Diseases and Epilepsy: Current Perspectives.

Tumienė B, Del Toro Riera M, Grikiniene J, et al.

Journal of multidisciplinary healthcare 2022; (15()):553-566 doi:10.2147/JMDH.S251863.

"Why them, why me, why us?" The experiences of parents of children with lysosomal acid lipase deficiency: an interpretative phenomenological analysis study.

Hassall S, Smith DM, Rust S, et al.

Orphanet journal of rare diseases 2022; (17(1)):193 doi:10.1186/s13023-022-02335-4.

Spontaneous spleen rupture mimicking non-specific thoracic pain: A rare case in physiotherapy practice.

Sforza C, Margelli M, Mourad F, et al.

Physiotherapy theory and practice 2023; (39(3)):641-649 doi:10.1080/09593985.2021.2021578.

2022 Consensus statement on the management of familial hypercholesterolemia in Korea.

Lee CJ, Yoon M, Kang HJ, et al.

The Korean journal of internal medicine 2022; (37(5)):931-944 doi:10.3904/kjim.2022.121.

Colesevelam - a bile acid sequestrant for treating hypercholesterolemia and improving hyperglycemia.

Esan O, Viljoen A, Wierzbicki AS

Expert opinion on pharmacotherapy 2022; (23(12)):1363-1370 doi:10.1080/14656566.2022.2112945.

Group intervention programs and their impact on well-being and quality-of-life for adults living with a rare or orphan disease - realist review of literature.

Bardon C, Guillemette A, Rioux ME, Rivard M

Disability and rehabilitation 2023; (45(16)):2567-2577 doi:10.1080/09638288.2022.2104943.

Identification of a novel CACNA1F mutation in a Chinese family with CORDX3.

Du M, Li Y, Zheng P, et al.

Molecular genetics & genomic medicine 2022; (10(11)):e2060 doi:10.1002/mgg3.2060.

Carer burden in rare inherited diseases: a literature review and conceptual model.

Sandilands K, Williams A, Rylands AJ

Orphanet journal of rare diseases 2022; (17(1)):428 doi:10.1186/s13023-022-02561-w.

Prevalence of familial hypercholesterolemia in patients with confirmed premature coronary artery disease in Ranchi, Jharkhand.

Kumar P, Prasad SR, Anand A, et al.

The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology 2022; (74(1)):83 doi:10.1186/s43044-022-00320-7.

The genomic landscape of rare disorders in the Middle East.

El Naofal M, Ramaswamy S, Alsarhan A, et al.

Genome medicine 2023; (15(1)):5 doi:10.1186/s13073-023-01157-8.

Inborn errors of bile acid metabolism in Japan.

Mizuochi T, Takei H, Nittono H, Kimura A

Pediatrics international : official journal of the Japan Pediatric Society 2023; (65(1)):e15490 doi:10.1111/ped.15490.

Estimated number and percentage of US adults with atherosclerotic cardiovascular disease recommended add-on lipid-lowering therapy by the 2018 AHA/ACC multi-society cholesterol guideline.

Alanaeme CJ, Bittner V, Brown TM, et al.

American heart journal plus : cardiology research and practice 2022; (21()) doi:10.1016/j.ahjo.2022.100201.

Inclisiran: A New Strategy for LDL-C Lowering and Prevention of Atherosclerotic Cardiovascular Disease.

Albosta MS, Grant JK, Taub P, et al.

Vascular health and risk management 2023; (19()):421-431 doi:10.2147/VHRM.S338424.

Living with a rare disease - experiences and needs in pediatric patients and their parents.

Witt S, Schuett K, Wiegand-Grefe S, et al.

Orphanet journal of rare diseases 2023; (18(1)):242 doi:10.1186/s13023-023-02837-9.

PEER simplified lipid guideline 2023 update: Prevention and management of cardiovascular disease in primary care.

Kolber MR, Klarenbach S, Cauchon M, et al.

Canadian family physician Medecin de famille canadien 2023; (69(10)):675-686 doi:10.46747/cfp.6910675.

Ultra-rare ultra-care: Assessing the impact of caring for children with ultra rare diseases.

Domaradzki J, Walkowiak D

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2024; (48()):78-84 doi:10.1016/j.ejpn.2023.12.003.

Acute Coronary Syndrome: Diagnosis and Initial Management.

Nohria R, Viera AJ

American family physician 2024; (109(1)):34-42.

The importance of LDL-C lowering in atherosclerotic cardiovascular disease prevention: Lower for longer is better.

Mhaimeed O, Burney ZA, Schott SL, et al.

American journal of preventive cardiology 2024; (18()):100649 doi:10.1016/j.ajpc.2024.100649.

Navigating cholestasis: identifying inborn errors of bile acid metabolism for precision diagnosis.

Nittono H, Suzuki M, Suzuki H, et al.

Frontiers in pediatrics 2024; (12()):1385970 doi:10.3389/fped.2024.1385970.

Bile acid metabolism and signaling in health and disease: molecular mechanisms and therapeutic targets.

Fleishman JS, Kumar S

Signal transduction and targeted therapy 2024; (9(1)):97 doi:10.1038/s41392-024-01811-6.

Patient experiences of interprofessional collaboration and intersectoral communication in rare disease healthcare in Germany - a mixed-methods study.

Inhestern L, Otto R, Brandt M, et al.

Orphanet journal of rare diseases 2024; (19(1)):197 doi:10.1186/s13023-024-03207-9.

Gallstone Disease: Common Questions and Answers.

Patel H, Jepsen J

American family physician 2024; (109(6)):518-524.

Connect-ROD - development and qualitative evaluation of a community-based group intervention to support well-being in patients with a rare or orphan disease.

Bardon C, Rioux MÉ, Rivard M, et al.

Orphanet journal of rare diseases 2024; (19(1)):254 doi:10.1186/s13023-024-03252-4.

Lower Healthcare Access and Its Association With Individual Factors and Health-Related Quality of Life in Adults With Rare Diseases in Switzerland.

Wehrli S, Dwyer AA, Baumgartner MR, et al.

International journal of public health 2024; (69()):1607548 doi:10.3389/ijph.2024.1607548.

Distinctive characteristics, risk factors, and prevention of premature myocardial infarction: A narrative review.

Rallidis S, Jovanovic A, Rallidis L

Journal of family medicine and primary care 2024; (13(9)):3509-3517 doi:10.4103/jfmpc.jfmpc_1874_23.

Variable Clinical Spectrum of Inborn Errors of Bile Acid Synthesis: A Report of 10 Cases.

Sümer Coşar Ö, Öztürk H, Sarı S, et al.

Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation 2024; (22(Suppl 5)):100-105 doi:10.6002/ect.pedsymp2024.O29.

Efficacy and safety of switching therapy from chenodeoxycholic acid to cholic acid in Japanese patients with bile acid synthesis disorders.

Suzuki M, Takei H, Suzuki H, et al.

Molecular genetics and metabolism reports 2024; (41()):101166 doi:10.1016/j.ymgmr.2024.101166.

The clinical and biochemical effectiveness and safety of cholic acid treatment for bile acid synthesis defects: a systematic review.

Polak Y, van Dussen L, Kemper EM, et al.

Orphanet journal of rare diseases 2024; (19(1)):466 doi:10.1186/s13023-024-03449-7.

Zellweger spectrum disorder presenting with opsoclonus-myoclonus-ataxia syndrome: a case report on immunotherapy.

Kılıç M, Yıldız H, Konuskan B

Acta neurologica Belgica 2025; (125(3)):861-864 doi:10.1007/s13760-025-02724-z.

Screening for Subclinical Atherosclerosis in Patients with Familial Hypercholesterolemia: Insights and Implications.

Deniz MF, Guven B, Ebeoglu AO, et al.

Journal of clinical medicine 2025; (14(2)) doi:10.3390/jcm14020656.

Association of bile acid composition with synthetic pathways and efficacy of bezafibrate in cholestatic liver disease.

Iida M, Higashida A, Ohtomo S, et al.

Clinical and molecular hepatology 2025; (31(4)):1372-1383 doi:10.3350/cmh.2025.0575.

The Evolving Trend of Liver Transplantation in Metabolic Diseases: From Origins to Current Perspectives.

Pietrobattista A, Martinelli D, Spada M, Dionisi-Vici C

Journal of inherited metabolic disease 2025; (48(6)):e70100 doi:10.1002/jimd.70100.

Pharmacology and therapeutics of bile acid synthesis and modification enzymes in metabolic diseases.

Ding L, Jin L, Huang W

Pharmacological reviews 2026; (78(2)):100115 doi:10.1016/j.pharmr.2026.100115.

Lipoprotein(a) in familial hypercholesterolemia.

Jaafar AK, Bourane S, Lambert GC, Chemello K

Current opinion in lipidology 2026; (37(3)):93-99 doi:10.1097/MOL.0000000000001032.

Impact of depression on quality of life in PKU children.

Abuelela IS, Bebars GM, Kamal AM, et al.

European journal of pediatrics 2026; (185(5)).