147 related articles for article (PubMed ID: 24103480)
1. Novel complex re-arrangement of ARG1 commonly shared by unrelated patients with hyperargininemia.
Mohseni J; Boon Hock C; Abdul Razak C; Othman SN; Hayati F; Peitee WO; Haniffa M; Zilfalil BA; Mohd Rawi R; Ngu LH; Sasongko TH
Gene; 2014 Jan; 533(1):240-5. PubMed ID: 24103480
[TBL] [Abstract][Full Text] [Related]
2. Characterization and mRNA expression analysis of a novel ARG1 splicing mutation causing hyperargininemia.
Villegas-Ruiz V; Campos-Garcia FJ; Contreras-Capetillo S; Moreno-Graciano CM; Maldonado-Solis FA; Maldonado-Solis MA; Zenteno JC
Clin Biochem; 2015 Dec; 48(18):1273-6. PubMed ID: 26169240
[TBL] [Abstract][Full Text] [Related]
3. Prenatal diagnosis for arginase deficiency by second-trimester fetal erythrocyte arginase assay and first-trimester ARG1 mutation analysis.
Korman SH; Gutman A; Stemmer E; Kay BS; Ben-Neriah Z; Zeigler M
Prenat Diagn; 2004 Nov; 24(11):857-60. PubMed ID: 15565656
[TBL] [Abstract][Full Text] [Related]
4. A novel mutation in ARG1 gene is responsible for arginase deficiency in an Asian family.
Hertecant JL; Al-Gazali LI; Karuvantevida NS; Ali BR
Saudi Med J; 2009 Dec; 30(12):1601-3. PubMed ID: 19936428
[TBL] [Abstract][Full Text] [Related]
5. Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes.
Carvalho DR; Brand GD; Brum JM; Takata RI; Speck-Martins CE; Pratesi R
Gene; 2012 Nov; 509(1):124-30. PubMed ID: 22959135
[TBL] [Abstract][Full Text] [Related]
6. Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia.
Cardoso ML; Martins E; Vasconcelos R; Vilarinho L; Rocha J
Hum Mutat; 1999 Oct; 14(4):355-6. PubMed ID: 10502833
[TBL] [Abstract][Full Text] [Related]
7. Case series of arginase 1 deficiency: Expanding the spectrum in hyperargininemia.
Dorum S; Havalı C
Pediatr Int; 2022 Jan; 64(1):e14945. PubMed ID: 34343381
[TBL] [Abstract][Full Text] [Related]
8. Identification of mutations (D128G, H141L) in the liver arginase gene of patients with hyperargininemia.
Vockley JG; Tabor DE; Kern RM; Goodman BK; Wissmann PB; Kang DS; Grody WW; Cederbaum SD
Hum Mutat; 1994; 4(2):150-4. PubMed ID: 7981719
[No Abstract] [Full Text] [Related]
9. Inducible arginase 1 deficiency in mice leads to hyperargininemia and altered amino acid metabolism.
Sin YY; Ballantyne LL; Mukherjee K; St Amand T; Kyriakopoulou L; Schulze A; Funk CD
PLoS One; 2013; 8(11):e80001. PubMed ID: 24224027
[TBL] [Abstract][Full Text] [Related]
10. Three novel mutations of ARG1 identified in Chinese patients with argininemia detected by newborn screening.
Zhang T; Yang J; Yin X; Yu P; Mooney R; Huang X; Qi M
Clin Chim Acta; 2017 Mar; 466():68-71. PubMed ID: 28089752
[TBL] [Abstract][Full Text] [Related]
11. Molecular basis of argininemia. Identification of two discrete frame-shift deletions in the liver-type arginase gene.
Haraguchi Y; Aparicio JM; Takiguchi M; Akaboshi I; Yoshino M; Mori M; Matsuda I
J Clin Invest; 1990 Jul; 86(1):347-50. PubMed ID: 2365823
[TBL] [Abstract][Full Text] [Related]
12. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
13. Five novel mutations in ARG1 gene in Chinese patients of argininemia.
Wu TF; Liu YP; Li XY; Wang Q; Ding Y; Ma YY; Song JQ; Yang YL
Pediatr Neurol; 2013 Aug; 49(2):119-23. PubMed ID: 23859858
[TBL] [Abstract][Full Text] [Related]
14. Recurrent hepatic failure and status epilepticus: an uncommon presentation of hyperargininemia.
Yucel H; Kasapkara ÇS; Akcaboy M; Aksoy E; Sahin GE; Derinkuyu BE; Senel S; Ceylaner S
Metab Brain Dis; 2018 Oct; 33(5):1775-1778. PubMed ID: 29961243
[TBL] [Abstract][Full Text] [Related]
15. Two Japanese siblings with arginase-1 deficiency identified using a novel frameshift mutation of
Nakajima H; Fukuhara S
J Pediatr Endocrinol Metab; 2022 Jan; 35(1):125-129. PubMed ID: 34653322
[TBL] [Abstract][Full Text] [Related]
16. Hyperargininemia: 7-month follow-up under sodium benzoate therapy in an Italian child presenting progressive spastic paraparesis, cognitive decline, and novel mutation in ARG1 gene.
Baranello G; Alfei E; Martinelli D; Rizzetto M; Cazzaniga F; Dionisi-Vici C; Gellera C; Castellotti B
Pediatr Neurol; 2014 Sep; 51(3):430-3. PubMed ID: 24997092
[TBL] [Abstract][Full Text] [Related]
17. Molecular genetic study of human arginase deficiency.
Grody WW; Klein D; Dodson AE; Kern RM; Wissmann PB; Goodman BK; Bassand P; Marescau B; Kang SS; Leonard JV
Am J Hum Genet; 1992 Jun; 50(6):1281-90. PubMed ID: 1598908
[TBL] [Abstract][Full Text] [Related]
18. Epidemiology, methods of diagnosis, and clinical management of patients with arginase 1 deficiency (ARG1-D): A systematic review.
Bin Sawad A; Jackimiec J; Bechter M; Trucillo A; Lindsley K; Bhagat A; Uyei J; Diaz GA
Mol Genet Metab; 2022; 137(1-2):153-163. PubMed ID: 36049366
[TBL] [Abstract][Full Text] [Related]
19. Arginase-1 deficiency.
Sin YY; Baron G; Schulze A; Funk CD
J Mol Med (Berl); 2015 Dec; 93(12):1287-96. PubMed ID: 26467175
[TBL] [Abstract][Full Text] [Related]
20. [Advances in clinical and molecular genetics studies on argininemia].
Wu TF; Yang YL
Zhongguo Dang Dai Er Ke Za Zhi; 2013 Nov; 15(11):954-9. PubMed ID: 24229587
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]