222 related articles for article (PubMed ID: 33369168)
1. Beclin-1-mediated activation of autophagy improves proximal and distal urea cycle disorders.
Soria LR; Gurung S; De Sabbata G; Perocheau DP; De Angelis A; Bruno G; Polishchuk E; Paris D; Cuomo P; Motta A; Orford M; Khalil Y; Eaton S; Mills PB; Waddington SN; Settembre C; Muro AF; Baruteau J; Brunetti-Pierri N
EMBO Mol Med; 2021 Feb; 13(2):e13158. PubMed ID: 33369168
[TBL] [Abstract][Full Text] [Related]
2. Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond.
Erez A; Nagamani SC; Lee B
Am J Med Genet C Semin Med Genet; 2011 Feb; 157C(1):45-53. PubMed ID: 21312326
[TBL] [Abstract][Full Text] [Related]
3. Histopathological findings in livers of patients with urea cycle disorders.
Yaplito-Lee J; Chow CW; Boneh A
Mol Genet Metab; 2013 Mar; 108(3):161-5. PubMed ID: 23403242
[TBL] [Abstract][Full Text] [Related]
4. Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings.
Silvera-Ruiz SM; Arranz JA; Häberle J; Angaroni CJ; Bezard M; Guelbert N; Becerra A; Peralta F; de Kremer RD; Laróvere LE
Orphanet J Rare Dis; 2019 Aug; 14(1):203. PubMed ID: 31426867
[TBL] [Abstract][Full Text] [Related]
5. Corticosteroid suppresses urea-cycle-related gene expressions in ornithine transcarbamylase deficiency.
Imoto K; Tanaka M; Goya T; Aoyagi T; Takahashi M; Kurokawa M; Tashiro S; Kato M; Kohjima M; Ogawa Y
BMC Gastroenterol; 2022 Mar; 22(1):144. PubMed ID: 35346058
[TBL] [Abstract][Full Text] [Related]
6. Clinical and genetic analysis of five Chinese patients with urea cycle disorders.
Zheng Z; Lin Y; Lin W; Zhu L; Jiang M; Wang W; Fu Q
Mol Genet Genomic Med; 2020 Jul; 8(7):e1301. PubMed ID: 32410394
[TBL] [Abstract][Full Text] [Related]
7. Acute metabolic decompensation due to influenza in a mouse model of ornithine transcarbamylase deficiency.
McGuire PJ; Tarasenko TN; Wang T; Levy E; Zerfas PM; Moran T; Lee HS; Bequette BJ; Diaz GA
Dis Model Mech; 2014 Feb; 7(2):205-13. PubMed ID: 24271778
[TBL] [Abstract][Full Text] [Related]
8. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
Kölker S; Valayannopoulos V; Burlina AB; Sykut-Cegielska J; Wijburg FA; Teles EL; Zeman J; Dionisi-Vici C; Barić I; Karall D; Arnoux JB; Avram P; Baumgartner MR; Blasco-Alonso J; Boy SP; Rasmussen MB; Burgard P; Chabrol B; Chakrapani A; Chapman K; Cortès I Saladelafont E; Couce ML; de Meirleir L; Dobbelaere D; Furlan F; Gleich F; González MJ; Gradowska W; Grünewald S; Honzik T; Hörster F; Ioannou H; Jalan A; Häberle J; Haege G; Langereis E; de Lonlay P; Martinelli D; Matsumoto S; Mühlhausen C; Murphy E; de Baulny HO; Ortez C; Pedrón CC; Pintos-Morell G; Pena-Quintana L; Ramadža DP; Rodrigues E; Scholl-Bürgi S; Sokal E; Summar ML; Thompson N; Vara R; Pinera IV; Walter JH; Williams M; Lund AM; Garcia-Cazorla A
J Inherit Metab Dis; 2015 Nov; 38(6):1059-74. PubMed ID: 25875216
[TBL] [Abstract][Full Text] [Related]
9. Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.
Bijarnia-Mahay S; Häberle J; Jalan AB; Puri RD; Kohli S; Kudalkar K; Rüfenacht V; Gupta D; Maurya D; Verma J; Shigematsu Y; Yamaguchi S; Saxena R; Verma IC
Orphanet J Rare Dis; 2018 Oct; 13(1):174. PubMed ID: 30285816
[TBL] [Abstract][Full Text] [Related]
10. Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in Korea.
Kim D; Ko JM; Kim YM; Seo GH; Kim GH; Lee BH; Yoo HW
J Hum Genet; 2018 Jul; 63(8):911-917. PubMed ID: 29773863
[TBL] [Abstract][Full Text] [Related]
11. Comprehensive characterization of ureagenesis in the spf
Allegri G; Deplazes S; Rimann N; Causton B; Scherer T; Leff JW; Diez-Fernandez C; Klimovskaia A; Fingerhut R; Krijt J; Kožich V; Nuoffer JM; Grisch-Chan HM; Thöny B; Häberle J
J Inherit Metab Dis; 2019 Nov; 42(6):1064-1076. PubMed ID: 30714172
[TBL] [Abstract][Full Text] [Related]
12. Argininosuccinate lyase deficiency.
Nagamani SC; Erez A; Lee B
Genet Med; 2012 May; 14(5):501-7. PubMed ID: 22241104
[TBL] [Abstract][Full Text] [Related]
13. Hereditary urea cycle diseases in Finland.
Keskinen P; Siitonen A; Salo M
Acta Paediatr; 2008 Oct; 97(10):1412-9. PubMed ID: 18616627
[TBL] [Abstract][Full Text] [Related]
14. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.
Kölker S; Garcia-Cazorla A; Valayannopoulos V; Lund AM; Burlina AB; Sykut-Cegielska J; Wijburg FA; Teles EL; Zeman J; Dionisi-Vici C; Barić I; Karall D; Augoustides-Savvopoulou P; Aksglaede L; Arnoux JB; Avram P; Baumgartner MR; Blasco-Alonso J; Chabrol B; Chakrapani A; Chapman K; I Saladelafont EC; Couce ML; de Meirleir L; Dobbelaere D; Dvorakova V; Furlan F; Gleich F; Gradowska W; Grünewald S; Jalan A; Häberle J; Haege G; Lachmann R; Laemmle A; Langereis E; de Lonlay P; Martinelli D; Matsumoto S; Mühlhausen C; de Baulny HO; Ortez C; Peña-Quintana L; Ramadža DP; Rodrigues E; Scholl-Bürgi S; Sokal E; Staufner C; Summar ML; Thompson N; Vara R; Pinera IV; Walter JH; Williams M; Burgard P
J Inherit Metab Dis; 2015 Nov; 38(6):1041-57. PubMed ID: 25875215
[TBL] [Abstract][Full Text] [Related]
15. Adult-onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients.
Toquet S; Spodenkiewicz M; Douillard C; Maillot F; Arnoux JB; Damaj L; Odent S; Moreau C; Redonnet-Vernhet I; Mesli S; Servais A; Noel E; Charriere S; Rigalleau V; Lavigne C; Kaphan E; Roubertie A; Besson G; Bigot A; Servettaz A; Mochel F; Garnotel R
J Inherit Metab Dis; 2021 Sep; 44(5):1199-1214. PubMed ID: 34014557
[TBL] [Abstract][Full Text] [Related]
16. Clinical findings of patients with hyperammonemia affected by urea cycle disorders with hepatic encephalopathy.
Lopes FF; Sitta A; de Moura Coelho D; Ribas GS; Faverzani JL; Dos Reis BG; Wajner M; Vargas CR
Int J Dev Neurosci; 2022 Dec; 82(8):772-788. PubMed ID: 36129623
[TBL] [Abstract][Full Text] [Related]
17. Ornithine restores ureagenesis capacity and mitigates hyperammonemia in Otc(spf-ash) mice.
Marini JC; Lee B; Garlick PJ
J Nutr; 2006 Jul; 136(7):1834-8. PubMed ID: 16772445
[TBL] [Abstract][Full Text] [Related]
18. [Molecular basis of urea cycle disorders].
Matsuda I; Matsuura T; Hoshide R; Uchino T; Matsubasa T
Nihon Rinsho; 1993 Feb; 51(2):520-4. PubMed ID: 8464164
[TBL] [Abstract][Full Text] [Related]
19. Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001-2013.
Unsinn C; Das A; Valayannopoulos V; Thimm E; Beblo S; Burlina A; Konstantopoulou V; Mayorandan S; de Lonlay P; Rennecke J; Derbinski J; Hoffmann GF; Häberle J
Orphanet J Rare Dis; 2016 Aug; 11(1):116. PubMed ID: 27538463
[TBL] [Abstract][Full Text] [Related]
20. Report of 3 Patients With Urea Cycle Defects Treated With Related Living-Donor Liver Transplant.
Özçay F; Barış Z; Moray G; Haberal N; Torgay A; Haberal M
Exp Clin Transplant; 2015 Nov; 13 Suppl 3():126-30. PubMed ID: 26640932
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]