166 related articles for article (PubMed ID: 29726057)
1. Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations.
Diez-Fernandez C; Rüfenacht V; Gemperle C; Fingerhut R; Häberle J
Hum Mutat; 2018 Aug; 39(8):1029-1050. PubMed ID: 29726057
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
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. 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]
7. [Seven patients of argininemia with spastic tetraplegia as the first and major symptom and prenatal diagnosis of two fetuses with high risk].
Wu T; Li X; Ding Y; Liu Y; Song J; Wang Q; Li M; Qin Y; Yang Y
Zhonghua Er Ke Za Zhi; 2015 Jun; 53(6):425-30. PubMed ID: 26310552
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. [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]
12. 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]
13. 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]
14. 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]
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. Arginase I mRNA therapy - a novel approach to rescue arginase 1 enzyme deficiency.
Asrani KH; Cheng L; Cheng CJ; Subramanian RR
RNA Biol; 2018; 15(7):914-922. PubMed ID: 29923457
[TBL] [Abstract][Full Text] [Related]
17. Lipid nanoparticle-targeted mRNA therapy as a treatment for the inherited metabolic liver disorder arginase deficiency.
Truong B; Allegri G; Liu XB; Burke KE; Zhu X; Cederbaum SD; Häberle J; Martini PGV; Lipshutz GS
Proc Natl Acad Sci U S A; 2019 Oct; 116(42):21150-21159. PubMed ID: 31501335
[TBL] [Abstract][Full Text] [Related]
18. Argininemia presenting with progressive spastic diplegia.
Lee BH; Jin HY; Kim GH; Choi JH; Yoo HW
Pediatr Neurol; 2011 Mar; 44(3):218-20. PubMed ID: 21310339
[TBL] [Abstract][Full Text] [Related]
19. The role and control of arginine levels in arginase 1 deficiency.
Diaz GA; Bechter M; Cederbaum SD
J Inherit Metab Dis; 2023 Jan; 46(1):3-14. PubMed ID: 36175366
[TBL] [Abstract][Full Text] [Related]
20. A novel compound heterozygous mutation in the arginase-1 gene identified in a Chinese patient with argininemia: A case report.
Cui D; Liu Y; Jin L; Hu L; Cao L
Medicine (Baltimore); 2020 Aug; 99(32):e21634. PubMed ID: 32769929
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
