191 related articles for article (PubMed ID: 28629372)
1. Novel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective study.
Li JQ; Qiu YL; Gong JY; Dou LM; Lu Y; Knisely AS; Zhang MH; Luan WS; Wang JS
BMC Gastroenterol; 2017 Jun; 17(1):77. PubMed ID: 28629372
[TBL] [Abstract][Full Text] [Related]
2. Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants.
Cotrina-Vinagre FJ; Rodríguez-García ME; Martín-Hernández E; Durán-Aparicio C; Merino-López A; Medina-Benítez E; Martínez-Azorín F
Mol Genet Metab; 2021 Jun; 133(2):201-210. PubMed ID: 33707149
[TBL] [Abstract][Full Text] [Related]
3. Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.
Haack TB; Staufner C; Köpke MG; Straub BK; Kölker S; Thiel C; Freisinger P; Baric I; McKiernan PJ; Dikow N; Harting I; Beisse F; Burgard P; Kotzaeridou U; Kühr J; Himbert U; Taylor RW; Distelmaier F; Vockley J; Ghaloul-Gonzalez L; Zschocke J; Kremer LS; Graf E; Schwarzmayr T; Bader DM; Gagneur J; Wieland T; Terrile C; Strom TM; Meitinger T; Hoffmann GF; Prokisch H
Am J Hum Genet; 2015 Jul; 97(1):163-9. PubMed ID: 26073778
[TBL] [Abstract][Full Text] [Related]
4. Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts.
Staufner C; Haack TB; Köpke MG; Straub BK; Kölker S; Thiel C; Freisinger P; Baric I; McKiernan PJ; Dikow N; Harting I; Beisse F; Burgard P; Kotzaeridou U; Lenz D; Kühr J; Himbert U; Taylor RW; Distelmaier F; Vockley J; Ghaloul-Gonzalez L; Ozolek JA; Zschocke J; Kuster A; Dick A; Das AM; Wieland T; Terrile C; Strom TM; Meitinger T; Prokisch H; Hoffmann GF
J Inherit Metab Dis; 2016 Jan; 39(1):3-16. PubMed ID: 26541327
[TBL] [Abstract][Full Text] [Related]
5. Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay.
Capo-Chichi JM; Mehawej C; Delague V; Caillaud C; Khneisser I; Hamdan FF; Michaud JL; Kibar Z; Mégarbané A
Eur J Med Genet; 2015 Dec; 58(12):637-41. PubMed ID: 26578240
[TBL] [Abstract][Full Text] [Related]
6. Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS.
Regateiro FS; Belkaya S; Neves N; Ferreira S; Silvestre P; Lemos S; Venâncio M; Casanova JL; Gonçalves I; Jouanguy E; Diogo L
Eur J Med Genet; 2017 Aug; 60(8):426-432. PubMed ID: 28576691
[TBL] [Abstract][Full Text] [Related]
7. Targeted next‑generation sequencing reveals two novel mutations of NBAS in a patient with infantile liver failure syndrome‑2.
Wang J; Pu Z; Lu Z
Mol Med Rep; 2018 Feb; 17(2):2245-2250. PubMed ID: 29207168
[TBL] [Abstract][Full Text] [Related]
8. Case Report: Pediatric Recurrent Acute Liver Failure Caused by Neuroblastoma Amplified Sequence (
Jiang B; Xiao F; Li X; Xiao Y; Wang Y; Zhang T
Front Pediatr; 2020; 8():607005. PubMed ID: 33520894
[TBL] [Abstract][Full Text] [Related]
9. Resolution of recurrent pediatric acute liver failure with liver transplantation in a patient with NBAS mutation.
Geem D; Jiang W; Rytting HB; Chandrakasan S; Salem A; Stevens JP; Karpen SJ; Magliocca JF; Romero R; Rodriguez DS
Pediatr Transplant; 2021 Nov; 25(7):e14084. PubMed ID: 34288298
[TBL] [Abstract][Full Text] [Related]
10. [Liver transplantation for the treatment of acute liver failure in 3 cases with NBAS gene deficiency and literature review].
Li ZD; Li YC; Shen CH; Wang JS; Xie XB
Zhonghua Er Ke Za Zhi; 2023 Jan; 61(1):66-69. PubMed ID: 36594124
[No Abstract] [Full Text] [Related]
11. Mutations in NBAS and SCYL1, genetic causes of recurrent liver failure in children: Three case reports and a literature review.
Chavany J; Cano A; Roquelaure B; Bourgeois P; Boubnova J; Gaignard P; Hoebeke C; Reynaud R; Rhomer B; Slama A; Badens C; Chabrol B; Fabre A
Arch Pediatr; 2020 Apr; 27(3):155-159. PubMed ID: 32146038
[TBL] [Abstract][Full Text] [Related]
12. NBAS deficiency due to biallelic c.2809C > G variant presenting with recurrent acute liver failure with severe hyperammonemia, acquired microcephaly and progressive brain atrophy.
Lipiński P; Greczan M; Piekutowska-Abramczuk D; Jurkiewicz E; Bakuła A; Socha P; Jankowska I; Rokicki D; Tylki-Szymańska A
Metab Brain Dis; 2021 Oct; 36(7):2169-2172. PubMed ID: 34427841
[TBL] [Abstract][Full Text] [Related]
13. Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype.
Kortüm F; Marquardt I; Alawi M; Korenke GC; Spranger S; Meinecke P; Kutsche K
Pediatrics; 2017 Jan; 139(1):. PubMed ID: 28031453
[TBL] [Abstract][Full Text] [Related]
14. NBAS mutations cause acute liver failure: when acetaminophen is not a culprit.
Calvo PL; Tandoi F; Haak TB; Brunati A; Pinon M; Olio DD; Romagnoli R; Spada M
Ital J Pediatr; 2017 Sep; 43(1):88. PubMed ID: 28946922
[TBL] [Abstract][Full Text] [Related]
15. Infantile fever-triggered acute liver failure caused by novel neuroblastoma amplified sequence mutations: a case report.
Li W; Zhu Y; Guo Q; Wan C
BMC Gastroenterol; 2020 Sep; 20(1):308. PubMed ID: 32957979
[TBL] [Abstract][Full Text] [Related]
16. NBAS disease: 14 new patients, a recurrent mutation, and genotype-phenotype correlation among 24 Chinese patients.
Li ZD; Abuduxikuer K; Zhang J; Yang Y; Qiu YL; Huang Y; Xie XB; Lu Y; Wang JS
Hepatol Res; 2020 Nov; 50(11):1306-1315. PubMed ID: 32812336
[TBL] [Abstract][Full Text] [Related]
17. Liver involvement in neuroblastoma amplified sequence gene deficiency is not limited to acute injury: Fibrosis silently continues.
Nazmi F; Ozdogan E; Mungan NO; Arikan C
Liver Int; 2021 Oct; 41(10):2433-2439. PubMed ID: 34396667
[TBL] [Abstract][Full Text] [Related]
18. Novel neuroblastoma amplified sequence (
Ono S; Matsuda J; Watanabe E; Akaike H; Teranishi H; Miyata I; Otomo T; Sadahira Y; Mizuochi T; Kusano H; Kage M; Ueno H; Yoshida K; Shiraishi Y; Chiba K; Tanaka H; Miyano S; Ogawa S; Hayashi Y; Kanegane H; Ouchi K
Hum Genome Var; 2019; 6():2. PubMed ID: 30622725
[TBL] [Abstract][Full Text] [Related]
19. Neuroblastoma amplified sequence gene mutation: A rare cause of recurrent liver failure in children.
Hasosah MY; Iskandarani AI; Shawli AI; Alsahafi AF; Sukkar GA; Qurashi MA
Saudi J Gastroenterol; 2017; 23(3):206-208. PubMed ID: 28611345
[TBL] [Abstract][Full Text] [Related]
20. Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child.
Rius R; Riley LG; Guo Y; Menezes M; Compton AG; Van Bergen NJ; Gayevskiy V; Cowley MJ; Cummings BB; Adams L; Ellaway C; Thorburn DR; Hakonarson H; Christodoulou J
Mol Genet Metab; 2019 Jan; 126(1):77-82. PubMed ID: 30558828
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
