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
40433928 (PubMed )
Supplement: LIV-45-0-s001.xlsx › Tabelle1
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
Hemophagocytic Lymphohistiocytosis in Association With Neuroblastoma Amplified Sequence (NBAS) Gene Variants: A Report of a Rare Case.
Gawhale S et al.
Cureus, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
38703036 (PubMed )
Supplement: ACN3-11-1478-s001.xlsx › Feuil2
Genetic landscape of pediatric acute liver failure of indeterminate origin.
Lenz D et al.
Hepatology (baltimore, Md.), 2024
37976411 (PubMed )
Supplement: hep-79-1075-s005.xlsx › Sup_Table_4
Pregnancy, delivery, and postpartum period in infantile liver failure syndrome type 2 due to variants in NBAS.
Peters B et al.
Jimd Reports, 2023
NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency.
Lenz D et al.
Journal of Clinical Immunology, 2021
Infantile fever-triggered acute liver failure caused by novel neuroblastoma amplified sequence mutations: a case report.
Li W et al.
Bmc Gastroenterology, 2020
NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations.
Carli D et al.
Human Mutation, 2019
Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS: DHMCi004-A.
Lenz D et al.
Stem Cell Research, 2019
Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS.
Regateiro FS et al.
European Journal of Medical Genetics, 2017
Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype.
Kortüm F et al.
Pediatrics, 2017
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts.
Staufner C et al.
Journal of Inherited Metabolic Disease, 2016
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.
Haack TB et al.
American Journal of Human Genetics, 2015
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