Literature DB >> 7981719

Identification of mutations (D128G, H141L) in the liver arginase gene of patients with hyperargininemia.

J G Vockley1, D E Tabor, R M Kern, B K Goodman, P B Wissmann, D S Kang, W W Grody, S D Cederbaum.   

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Year:  1994        PMID： 7981719     DOI： 10.1002/humu.1380040210

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  13 in total

Review 1.  Arginase-1 deficiency.

Authors:  Yuan Yan Sin; Garrett Baron; Andreas Schulze; Colin D Funk
Journal:  J Mol Med (Berl)       Date:  2015-10-14       Impact factor: 4.599

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.  Insights into the arginine paradox: evidence against the importance of subcellular location of arginase and eNOS.

Authors:  Shawn Elms; Feng Chen; Yusi Wang; Jin Qian; Bardia Askari; Yanfang Yu; Deepesh Pandey; Jennifer Iddings; Ruth B Caldwell; David J R Fulton
Journal:  Am J Physiol Heart Circ Physiol       Date:  2013-06-21       Impact factor: 4.733

4.  Structure and function of non-native metal clusters in human arginase I.

Authors:  Edward L D'Antonio; Yang Hai; David W Christianson
Journal:  Biochemistry       Date:  2012-10-12       Impact factor: 3.162

5.  Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan.

Authors:  T Uchino; F Endo; I Matsuda
Journal:  J Inherit Metab Dis       Date:  1998       Impact factor: 4.982

6.  Mouse model for human arginase deficiency.

Authors:  Ramaswamy K Iyer; Paul K Yoo; Rita M Kern; Nora Rozengurt; Rosemarie Tsoa; William E O'Brien; Hong Yu; Wayne W Grody; Stephen D Cederbaum
Journal:  Mol Cell Biol       Date:  2002-07       Impact factor: 4.272

7.  Prenatal diagnosis for arginase deficiency: a case study.

Authors:  S Hewson; J T R Clarke; S Cederbaum
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

8.  Lethal phenotype in conditional late-onset arginase 1 deficiency in the mouse.

Authors:  Jennifer Kasten; Chuhong Hu; Ragini Bhargava; Hana Park; Denise Tai; James A Byrne; Bart Marescau; Peter P De Deyn; Lisa Schlichting; Wayne W Grody; Stephen D Cederbaum; Gerald S Lipshutz
Journal:  Mol Genet Metab       Date:  2013-07-06       Impact factor: 4.797

9.  Menstrual cycle and gonadal steroid effects on symptomatic hyperammonaemia of urea-cycle-based and idiopathic aetiologies.

Authors:  W W Grody; R J Chang; N M Panagiotis; D Matz; S D Cederbaum
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

10.  Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.

Authors:  Martina Huemer; Daniel R Carvalho; Jaime M Brum; Özlem Ünal; Turgay Coskun; James D Weisfeld-Adams; Nina L Schrager; Sabine Scholl-Bürgi; Andrea Schlune; Markus G Donner; Martin Hersberger; Claudio Gemperle; Brunhilde Riesner; Hanno Ulmer; Johannes Häberle; Daniela Karall
Journal:  J Inherit Metab Dis       Date:  2016-04-01       Impact factor: 4.982
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