Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Congenital bile acid synthetic disorder type 3 caused by CYP7B1 gene variation in 2 cases and literature review].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Sept 2024

Wang C H, Lu M, Zhao J, Huang B Q, Ye P P, Wang J S

Abstract excerpt

Objective: To summarize the clinical features and genetic characteristics of Congenital bile acid synthetic disorder type 3 (BASD3) disorder caused by CYP7B1 gene variation. Methods: This was a case series study. Clinical data and genetic results of 2 cases of congenital bile acid synthetic disorder type 3 caused by CYP7B1 gene variations in the Department of Infectious Diseases, Children's Hospital of Fudan...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Bile Acids and Salts
Share to Cholestasis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Infant, Newborn

Share to Mutation

Share to Steroid Hydroxylases

Source

Identifiers

PMID: 39192447
DOI: 10.3760/cma.j.cn112140-20240415-00269

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Congenital bile acid synthetic disorder type 3 caused by CYP7B1 gene variation in 2 cases and literature review].PMID 39192447Read ↗

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

AKR1D1 and CYP7B1 mutations in patients with inborn errors of bile acid metabolism: Possibly underdiagnosed diseasesSemantic proximity Read ↗

Variable Clinical Spectrum of Inborn Errors of Bile Acid Synthesis: A Report of 10 Cases.Semantic proximity Read ↗

Neonatal Dubin-Johnson syndrome: biochemical parameters, characteristics, and genetic variants study.Semantic proximity Read ↗

Neonatal Cholestasis: Exploring Genetic Causes and Clinical OutcomesSemantic proximity Read ↗

Clinical and genetic features of congenital bile acid synthesis defect with a novel mutation in AKR1D1 gene sequencing: Case reports.Semantic proximity Read ↗

Clinical Characteristics and Genotype-Phenotype Correlation Analysis of 19 Cases of Alagille SyndromeSemantic proximity Read ↗

[Advances in research on the clinical phenotype and genetic etiology of jaundice associated with Hereditary bilirubin metabolic disorders].Semantic proximity Read ↗

Cholestasis as a dominating symptom of patients with CYP27A1 mutations: An analysis of 17 Chinese infants.Semantic proximity Read ↗

[Clinical feature and genetic analysis of a family affected by congenital bile acid synthesis defect type 2: identification of 2 novel mutations in AKR1D1 gene].Semantic proximity Read ↗

[Clinical features of a Chinese infant with inborn error of bile acid metabolism-3β-hydroxy-Δ(5)-C27-steroid dehydrogenase deficiency and review of the literature].Semantic proximity Read ↗

[Clinical characteristics of ABCB4 gene variant-associated cholestatic liver disease in adults].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.