Associated Papers
Hepatic Phenotype in NBAS-Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients.
Peters B et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2025
[Clinical features and genetic study of four cases of pediatric acute liver failure caused by NBAS gene variants].
Yu JD et al.
Zhonghua Gan Zang Bing Za Zhi = Zhonghua Ganzangbing Zazhi = Chinese Journal of Hepatology, 2025
[Clinical features and genetic analysis of three patients with Infantile liver failure syndrome type 2 due to variants of NBAS gene].
Li S et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025
Case Report: Living donor liver transplantation for the treatment of recurrent pediatric acute liver failure with neuroblastoma amplified sequence gene mutation: a literature review.
He S et al.
Frontiers in Pediatrics, 2025
A novel splicing variant in NBAS identified by minigene assay causes infantile liver failure syndrome type 2.
Hu A et al.
Frontiers in Genetics, 2025
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.
Hammann N et al.
Molecular Genetics and Metabolism, 2024
Genetic background and clinical characteristics of infantile hyperammonemia.
Li M et al.
Translational Pediatrics, 2023
Case report: A novel cause of acute liver failure in children: A combination of human herpesvirus-6 infection and homozygous mutation in NBAS gene.
Cheng Y et al.
Journal of Clinical Laboratory Analysis, 2022
[Clinical features and genetic testing of a child with hepatic failure syndrome type 2].
Jiang T et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022
NBAS disease: 14 new patients, a recurrent mutation, and genotype-phenotype correlation among 24 Chinese patients.
Li ZD et al.
Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2020
Infantile fever-triggered acute liver failure caused by novel neuroblastoma amplified sequence mutations: a case report.
Li W et al.
Bmc Gastroenterology, 2020
Complex Multisystem Phenotype With Immunodeficiency Associated With NBAS Mutations: Reports of Three Patients and Review of the Literature.
Khoreva A et al.
Frontiers in Pediatrics, 2020
Case Report: Pediatric Recurrent Acute Liver Failure Caused by Neuroblastoma Amplified Sequence (NBAS) Gene Mutations.
Jiang B et al.
Frontiers in Pediatrics, 2020
NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations.
Carli D et al.
Human Mutation, 2019
Targeted next‑generation sequencing reveals two novel mutations of NBAS in a patient with infantile liver failure syndrome‑2.
Wang J et al.
Molecular Medicine Reports, 2018
Novel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective study.
Li JQ et al.
Bmc Gastroenterology, 2017