132 related articles for article (PubMed ID: 38553872)
1. Kinesin family member 12-related hepatopathy: A generally indolent disorder with elevated gamma-glutamyl-transferase activity.
Vogel GF; Podpeskar A; Rieder D; Salzer H; Garczarczyk-Asim D; Wang L; Abuduxikuer K; Wang JS; Scharrer A; Faqeih EA; Aseeri AT; Vodopiutz J; Heilos A; Pichler J; Huber WD; Müller T; Knisely AS; Janecke AR
Clin Genet; 2024 Mar; ():. PubMed ID: 38553872
[TBL] [Abstract][Full Text] [Related]
2. Recessive Mutations in
Ünlüsoy Aksu A; Das SK; Nelson-Williams C; Jain D; Özbay Hoşnut F; Evirgen Şahin G; Lifton RP; Vilarinho S
Hepatol Commun; 2019 Apr; 3(4):471-477. PubMed ID: 30976738
[TBL] [Abstract][Full Text] [Related]
3. Cholestatic Liver Disease in a Child with KIF12 Mutation.
Samanta A; Sarma MS; Srivastava A; Poddar U
Indian J Pediatr; 2023 Nov; ():. PubMed ID: 37919484
[TBL] [Abstract][Full Text] [Related]
4. Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants.
Maddirevula S; Alhebbi H; Alqahtani A; Algoufi T; Alsaif HS; Ibrahim N; Abdulwahab F; Barr M; Alzaidan H; Almehaideb A; AlSasi O; Alhashem A; Hussaini HA; Wali S; Alkuraya FS
Genet Med; 2019 May; 21(5):1164-1172. PubMed ID: 30250217
[TBL] [Abstract][Full Text] [Related]
5. SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN).
Lenz D; McClean P; Kansu A; Bonnen PE; Ranucci G; Thiel C; Straub BK; Harting I; Alhaddad B; Dimitrov B; Kotzaeridou U; Wenning D; Iorio R; Himes RW; Kuloğlu Z; Blakely EL; Taylor RW; Meitinger T; Kölker S; Prokisch H; Hoffmann GF; Haack TB; Staufner C
Genet Med; 2018 Oct; 20(10):1255-1265. PubMed ID: 29419818
[TBL] [Abstract][Full Text] [Related]
6. KIF12 Variants and Disturbed Hepatocyte Polarity in Children with a Phenotypic Spectrum of Cholestatic Liver Disease.
Stalke A; Sgodda M; Cantz T; Skawran B; Lainka E; Hartleben B; Baumann U; Pfister ED
J Pediatr; 2022 Jan; 240():284-291.e9. PubMed ID: 34555379
[TBL] [Abstract][Full Text] [Related]
7. Characterization of KIF12 gene in silico.
Katoh M; Katoh M
Oncol Rep; 2005 Feb; 13(2):367-70. PubMed ID: 15643526
[TBL] [Abstract][Full Text] [Related]
8. [Chinese experts consensus statement: diagnosis and treatment of cystic fibrosis (2023)].
; ;
Zhonghua Jie He He Hu Xi Za Zhi; 2023 Apr; 46(4):352-372. PubMed ID: 36990700
[TBL] [Abstract][Full Text] [Related]
9. Clinical exome sequencing reveals a novel pathogenic variant in KIF12 underlying cholestasis with highly variable phenotypes.
Waheed N; Waris R; Naseer M; Razzaq A; Suleman S; Ullah A
Clin Genet; 2024 Jan; 105(1):106-108. PubMed ID: 37866826
[TBL] [Abstract][Full Text] [Related]
10. Liver transplantation in an infant with cerebrotendinous xanthomatosis, cholestasis, and rapid evolution of liver failure.
Pietrobattista A; Spada M; Candusso M; Boenzi S; Dionisi-Vici C; Francalanci P; Morrone A; Ferri L; Indolfi G; Agolini E; Giordano G; Monti L; Maggiore G; Knisely AS
Pediatr Transplant; 2022 Sep; 26(6):e14318. PubMed ID: 35633129
[TBL] [Abstract][Full Text] [Related]
11. Biallelic loss-of-function
Luan W; Hao CZ; Li JQ; Wei Q; Gong JY; Qiu YL; Lu Y; Shen CH; Xia Q; Xie XB; Zhang MH; Abuduxikuer K; Li ZD; Wang L; Xing QH; Knisely AS; Wang JS
J Med Genet; 2021 Aug; 58(8):514-525. PubMed ID: 32737136
[TBL] [Abstract][Full Text] [Related]
12. [Neonatal sclerosing cholangitis caused by DCDC2 variations in two siblings and literature review].
Li JQ; Lu Y; Qiu YL; Wang JS
Zhonghua Er Ke Za Zhi; 2018 Aug; 56(8):623-627. PubMed ID: 30078246
[No Abstract] [Full Text] [Related]
13. [Effects of Li-Dan-He-Ji on regulating oxidative stress and antagonising infantile cholestatic hepatic fibrosis].
Yi W; Yan S; Tang J; Ma X; Su M; Li H
Zhonghua Wei Zhong Bing Ji Jiu Yi Xue; 2023 Jul; 35(7):741-745. PubMed ID: 37545453
[TBL] [Abstract][Full Text] [Related]
14. Obstetric cholestasis with elevated gamma glutamyl transpeptidase: incidence, presentation and treatment.
Milkiewicz P; Gallagher R; Chambers J; Eggington E; Weaver J; Elias E
J Gastroenterol Hepatol; 2003 Nov; 18(11):1283-6. PubMed ID: 14535985
[TBL] [Abstract][Full Text] [Related]
15. MYO5B Gene Mutations: A Not Negligible Cause of Intrahepatic Cholestasis of Infancy With Normal Gamma-Glutamyl Transferase Phenotype.
Matarazzo L; Bianco AM; Athanasakis E; Serveres M; Francalanci P; Cenacchi G; Maggiore G; D'Adamo AP
J Pediatr Gastroenterol Nutr; 2022 May; 74(5):e115-e121. PubMed ID: 35129155
[TBL] [Abstract][Full Text] [Related]
16. Clinical and genetic characterization of pediatric patients with progressive familial intrahepatic cholestasis type 3 (PFIC3): identification of 14 novel ABCB4 variants and review of the literatures.
Chen R; Yang FX; Tan YF; Deng M; Li H; Xu Y; Ouyang WX; Song YZ
Orphanet J Rare Dis; 2022 Dec; 17(1):445. PubMed ID: 36550572
[TBL] [Abstract][Full Text] [Related]
17. Association of novel TMEM67 variants with mild phenotypes of high gamma-glutamyl transpeptidase cholestasis and congenital hepatic fibrosis.
Qiu YL; Wang L; Huang M; Lian M; Wang F; Gong Y; Ma X; Hao CZ; Zhang J; Li ZD; Xing QH; Cao M; Wang JS
J Cell Physiol; 2022 Jun; 237(6):2713-2723. PubMed ID: 35621037
[TBL] [Abstract][Full Text] [Related]
18. Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort.
Mínguez Rodríguez B; Molera Busoms C; Martorell Sampol L; García Romero R; Colomé Rivero G; Martín de Carpi J
Gastroenterol Hepatol; 2022 Oct; 45(8):585-592. PubMed ID: 34942279
[TBL] [Abstract][Full Text] [Related]
19. Cardiac hepatopathy before and after heart transplantation.
Dichtl W; Vogel W; Dunst KM; Grander W; Alber HF; Frick M; Antretter H; Laufer G; Pachinger O; Pölzl G
Transpl Int; 2005 Jun; 18(6):697-702. PubMed ID: 15910296
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
