Literature DB >> 11916327

Liver transplantation in a case of argininaemia.

E Santos Silva1, E Martins, M L Cardoso, C Barbot, L Vilarinho, M Medina.   

Abstract

Mesh：

Substances：

Year:  2001        PMID： 11916327     DOI： 10.1023/a:1013960712516

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


× No keyword cloud information.
  2 in total

1.  Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia.

Authors:  M L Cardoso; E Martins; R Vasconcelos; L Vilarinho; J Rocha
Journal:  Hum Mutat       Date:  1999-10       Impact factor: 4.878

2.  Liver transplantation for the treatment of urea cycle disorders.

Authors:  P F Whitington; E M Alonso; J T Boyle; J P Molleston; P Rosenthal; J C Emond; J M Millis
Journal:  J Inherit Metab Dis       Date:  1998       Impact factor: 4.982
  2 in total
  7 in total

1.  Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported?

Authors:  Shailly Jain-Ghai; Sandesh C Sreenath Nagamani; Susan Blaser; Komudi Siriwardena; Annette Feigenbaum
Journal:  Mol Genet Metab       Date:  2011-07-13       Impact factor: 4.797

2.  Neonatal cholestasis: an uncommon presentation of hyperargininemia.

Authors:  Esmeralda Gomes Martins; Ermelinda Santos Silva; Silvia Vilarinho; Jean Marie Saudubray; Laura Vilarinho
Journal:  J Inherit Metab Dis       Date:  2011-01-13       Impact factor: 4.982

3.  Liver transplantation prevents progressive neurological impairment in argininemia.

Authors:  E Santos Silva; M L Cardoso; L Vilarinho; M Medina; C Barbot; E Martins
Journal:  JIMD Rep       Date:  2013-04-05

4.  Lipid nanoparticle-targeted mRNA therapy as a treatment for the inherited metabolic liver disorder arginase deficiency.

Authors:  Brian Truong; Gabriella Allegri; Xiao-Bo Liu; Kristine E Burke; Xuling Zhu; Stephen D Cederbaum; Johannes Häberle; Paolo G V Martini; Gerald S Lipshutz
Journal:  Proc Natl Acad Sci U S A       Date:  2019-09-09       Impact factor: 11.205

5.  Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency.

Authors:  Lindsay C Burrage; Qin Sun; Sarah H Elsea; Ming-Ming Jiang; Sandesh C S Nagamani; Arthur E Frankel; Everett Stone; Susan E Alters; Dale E Johnson; Scott W Rowlinson; George Georgiou; Brendan H Lee
Journal:  Hum Mol Genet       Date:  2015-09-10       Impact factor: 6.150

Review 6.  Suggested guidelines for the diagnosis and management of urea cycle disorders.

Authors:  Johannes Häberle; Nathalie Boddaert; Alberto Burlina; Anupam Chakrapani; Marjorie Dixon; Martina Huemer; Daniela Karall; Diego Martinelli; Pablo Sanjurjo Crespo; René Santer; Aude Servais; Vassili Valayannopoulos; Martin Lindner; Vicente Rubio; Carlo Dionisi-Vici
Journal:  Orphanet J Rare Dis       Date:  2012-05-29       Impact factor: 4.123

7.  Biomarkers for liver disease in urea cycle disorders.

Authors:  Sandesh C S Nagamani; Saima Ali; Rima Izem; Deborah Schady; Prakash Masand; Benjamin L Shneider; Daniel H Leung; Lindsay C Burrage
Journal:  Mol Genet Metab       Date:  2021-04-08       Impact factor: 4.204
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.