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.

[Infant with 3β-hydroxy-Δ(5)-C27 steroid dehydrogenase deficiency: report of two cases and literatures review].

Li X, Huang Z, Wang H

Zhonghua er ke za zhi = Chinese journal of pediatrics 2015; (53(5)):360-5.

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.

Attempt to Determine the Prevalence of Two Inborn Errors of Primary Bile Acid Synthesis: Results of a European Survey.

Jahnel J, Zöhrer E, Fischler B, et al.

Journal of pediatric gastroenterology and nutrition 2017; (64(6)):864-868 doi:10.1097/MPG.0000000000001546.

Oral Cholic Acid Is Efficacious and Well Tolerated in Patients With Bile Acid Synthesis and Zellweger Spectrum Disorders.

Heubi JE, Bove KE, Setchell KDR

Journal of pediatric gastroenterology and nutrition 2017; (65(3)):321-326 doi:10.1097/MPG.0000000000001657.

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.

Atypical clinical presentation and successful treatment with oral cholic acid of a child with defective bile acid synthesis due to a novel mutation in the HSD3B7 gene.

Bossi G, Giordano G, Rispoli GA, et al.

Pediatric reports 2017; (9(3)):7266 doi:10.4081/pr.2017.7266.

Alone in a Crowd? Parents of Children with Rare Diseases' Experiences of Navigating the Healthcare System.

Baumbusch J, Mayer S, Sloan-Yip I

Journal of genetic counseling 2018; doi:10.1007/s10897-018-0294-9.

Cholic acid for primary bile acid synthesis defects: a life-saving therapy allowing a favorable outcome in adulthood.

Gonzales E, Matarazzo L, Franchi-Abella S, et al.

Orphanet journal of rare diseases 2018; (13(1)):190 doi:10.1186/s13023-018-0920-5.

Bile Acid Synthesis Disorder Masquerading as Intractable Vitamin D-Deficiency Rickets.

Ahmad O, Nogueira J, Heubi JE, et al.

Journal of the Endocrine Society 2019; (3(2)):397-402 doi:10.1210/js.2018-00314.

Open-label Phase 3 Continuation Study of Cholic Acid in Patients With Inborn Errors of Bile Acid Synthesis.

Heubi JE, Setchell KDR

Journal of pediatric gastroenterology and nutrition 2020; (70(4)):423-429 doi:10.1097/MPG.0000000000002618.

Changes in plasma bile acid profiles after partial internal biliary diversion in PFIC2 patients.

Liu T, Wang RX, Han J, et al.

Annals of translational medicine 2020; (8(5)):185 doi:10.21037/atm.2020.01.103.

Practical approach to imaging diagnosis of biliary atresia, Part 1: prenatal ultrasound and magnetic resonance imaging, and postnatal ultrasound.

Napolitano M, Franchi-Abella S, Damasio MB, et al.

Pediatric radiology 2021; (51(2)):314-331 doi:10.1007/s00247-020-04840-9.

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.

Practical approach for the diagnosis of biliary atresia on imaging, part 2: magnetic resonance cholecystopancreatography, hepatobiliary scintigraphy, percutaneous cholecysto-cholangiography, endoscopic retrograde cholangiopancreatography, percutaneous liver biopsy, risk scores and decisional flowchart.

Napolitano M, Franchi-Abella S, Damasio BM, et al.

Pediatric radiology 2021; (51(8)):1545-1554 doi:10.1007/s00247-021-05034-7.

Genetic spectrum and clinical characteristics of 3β-hydroxy-Δ5-C27-steroid oxidoreductase (HSD3B7) deficiency in China.

Zhao J, Setchell KDR, Gong Y, et al.

Orphanet journal of rare diseases 2021; (16(1)):417 doi:10.1186/s13023-021-02041-7.

The cholestatic infant: updates on diagnosis and genetics.

Wehrman A, Lee CK

Current opinion in pediatrics 2022; (34(5)):491-495 doi:10.1097/MOP.0000000000001156.

Protocols of Investigation of Neonatal Cholestasis-A Critical Appraisal.

Quelhas P, Jacinto J, Cerski C, et al.

Healthcare (Basel, Switzerland) 2022; (10(10)) doi:10.3390/healthcare10102012.

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.

Novel mutation in the HSD3B7 gene causes bile acid synthetic disorder and presents as recurrent liver failure in early childhood.

Jebaying Y, Kumar K, Malhotra S, Sibal A

BMJ case reports 2023; (16(2)) doi:10.1136/bcr-2021-245852.

Psychosocial impacts of caring for a child with a genetic disorder in Accra, Ghana.

Opoku P, Osei-Tutu A, Oti-Boadi M

Journal of community genetics 2023; (14(6)):565-574 doi:10.1007/s12687-023-00662-y.

Dried blood spot-based newborn screening for bile acid synthesis disorders, Zellweger spectrum disorder, and Niemann-Pick type C1 by detection of bile acid metabolites.

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

Molecular genetics and metabolism 2023; (140(1-2)):107703 doi:10.1016/j.ymgme.2023.107703.

Becoming a Rare Disease Parent: An Interpretative Phenomenological Analysis of Parent-Caregivers' Postpartum Experiences.

Davidson HR, Gelles S, Keller KR, et al.

Qualitative health research 2024; (34(1-2)):126-140 doi:10.1177/10497323231205419.

The Association between Healthcare Satisfaction and Social Support and Stress, Depression, and Life Satisfaction in Female Caregivers: The Moderating Role of Dependence of a Sick Child.

Pavić J, Krznar M, Čukljek S, et al.

International journal of environmental research and public health 2024; (21(9)) doi:10.3390/ijerph21091245.

Substrate specificity and kinetic mechanism of 3β-hydroxy-Δ5-C27-steroid oxidoreductase.

Gardner SM, Vogt A, Penning TM, Marmorstein R

The Journal of biological chemistry 2024; (300(12)):107945 doi:10.1016/j.jbc.2024.107945.

Enhancing care coordination for neurofibromatosis type 1 in primary care: insights and applications for rare diseases.

Evans W, Chauhan J, Imam A, Hayward J

Journal of community genetics 2025; (16(6)):747-757 doi:10.1007/s12687-025-00811-5.

The Diagnostic Saga of a Rare Congenital Bile Acid Synthesis Disorder: A Case Report.

Yazbeck N, Hanna-Wakim R, Noun D, Karam PE

Clinical medicine insights. Pediatrics 2025; (19()):11795565251340558 doi:10.1177/11795565251340558.

Significance of Genetic Testing in Diagnosing Cholestatic Disease in Infants.

Khan M, Shehzad MU, Khattak UM, et al.

Cureus 2026; (18(2)):e103031 doi:10.7759/cureus.103031.

Delayed diagnosis of 3β-HSD7 deficiency in adolescence: Two case reports and review of the literature.

Pendleton S, Mostafavi M, Mathew J, et al.

JPGN reports 2026; (7(2)):236-241 doi:10.1002/jpr3.70159.

Monitoring Atypical Metabolite Biomarkers in Patients with Bile Acid Synthesis Disorders by a Novel Targeted Tandem Mass Spectrometry Assay.

Setchell KDR, Zhao X, Reed S, Zhang W

Metabolites 2026; (16(7)) doi:10.3390/metabo16070436.

Genetic and clinical spectrum of progressive familial intrahepatic cholestasis type 1: novel ATP8B1 variants and genotype-phenotype correlations.

Lin H, Peng XR, Qin XM, et al.

European journal of pediatrics 2026; (185(10)).