Literature DB >> 8474825

Arginase deficiency presenting as cerebral palsy.

A E Scheuerle1, R McVie, A L Beaudet, S K Shapira.   

Abstract

Entities:  

Mesh：

Year:  1993        PMID： 8474825

Source DB:  PubMed          Journal:  Pediatrics        ISSN： 0031-4005            Impact factor:   7.124


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  5 in total

1.  Arginase deficiency presenting with convulsions.

Authors:  J S Patel; W V van't Hoff; J V Leonard
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

2.  Arginase I mRNA therapy - a novel approach to rescue arginase 1 enzyme deficiency.

Authors:  Kirtika H Asrani; Lei Cheng; Christopher J Cheng; Romesh R Subramanian
Journal:  RNA Biol       Date:  2018-07-24       Impact factor: 4.652

3.  Molecular basis of phenotypic variation in patients with argininemia.

Authors:  T Uchino; S E Snyderman; M Lambert; I A Qureshi; S K Shapira; C Sansaricq; L M Smit; C Jakobs; I Matsuda
Journal:  Hum Genet       Date:  1995-09       Impact factor: 4.132

Review 4.  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

5.  Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family.

Authors:  Liena E O Elsayed; Inaam N Mohammed; Ahlam A A Hamed; Maha A Elseed; Mustafa A M Salih; Ashraf Yahia; Rayan Abubaker; Mahmoud Koko; Amal S I Abd Allah; Mustafa I Elbashir; Muntaser E Ibrahim; Alexis Brice; Ammar E Ahmed; Giovanni Stevanin
Journal:  Front Neurol       Date:  2020-10-29       Impact factor: 4.003
  5 in total

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