Bianca Peters
Overview
Explore the profile of Bianca Peters including associated specialties, affiliations and a list of published articles.
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6
Citations
35
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Recent Articles
1.
Peters B, Dattner T, Schlieben L, Sun T, Staufner C, Lenz D
J Inherit Metab Dis
. 2024 Jan;
48(1):e12707.
PMID: 38279772
Among genetic disorders of vesicular trafficking, there are three causing recurrent acute liver failure (RALF): NBAS, RINT1, and SCYL1-associated disease. These three disorders are characterized by liver crises triggered by...
2.
Hammann N, Lenz D, Baric I, Crushell E, Vici C, Distelmaier F, et al.
Mol Genet Metab
. 2024 Jan;
141(3):108118.
PMID: 38244286
Biallelic pathogenic variants in neuroblastoma-amplified sequence (NBAS) cause a pleiotropic multisystem disorder. Three clinical subgroups have been defined correlating with the localisation of pathogenic variants in the NBAS gene: variants...
3.
Lenz D, Schlieben L, Shimura M, Bianzano A, Smirnov D, Kopajtich R, et al.
Hepatology
. 2023 Nov;
79(5):1075-1087.
PMID: 37976411
Background And Aims: Pediatric acute liver failure (PALF) is a life-threatening condition. In Europe, the main causes are viral infections (12%-16%) and inherited metabolic diseases (14%-28%). Yet, in up to...
4.
Peters B, Wiemers F, Lenz D, Kolker S, Hoffmann G, Kohler S, et al.
JIMD Rep
. 2023 May;
64(3):246-251.
PMID: 37151364
Biallelic pathogenic variants in the neuroblastoma amplified sequence () gene affecting the Sec39 domain are associated with a predominant hepatic phenotype named infantile liver failure syndrome type 2 (ILFS2). Individuals...
5.
Lenz D, Pahl J, Hauck F, Alameer S, Balasubramanian M, Baric I, et al.
J Clin Immunol
. 2021 Aug;
41(8):1781-1793.
PMID: 34386911
Purpose: Biallelic pathogenic NBAS variants manifest as a multisystem disorder with heterogeneous clinical phenotypes such as recurrent acute liver failure, growth retardation, and susceptibility to infections. This study explores how...
6.
Staufner C, Peters B, Wagner M, Alameer S, Baric I, Broue P, et al.
Genet Med
. 2019 Nov;
22(3):610-621.
PMID: 31761904
Purpose: Pathogenic variants in neuroblastoma-amplified sequence (NBAS) cause an autosomal recessive disorder with a wide range of symptoms affecting liver, skeletal system, and brain, among others. There is a continuously...