Literature DB >> 9762606

Adult-onset arginase deficiency.

D M Cowley1, F G Bowling, J J McGill, J van Dongen, D Morris.   

Abstract

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Year:  1998        PMID： 9762606     DOI： 10.1023/a:1005492819527

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


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  8 in total

1.  A Case of Hyperargininaemia Presenting at Unusually Low Age.

Authors:  Vanita Lal; Daisy Khera; Garima Gupta; Kuldeep Singh; Praveen Sharma
Journal:  J Clin Diagn Res       Date:  2017-07-01

Review 2.  Fifteen years of urea cycle disorders brain research: Looking back, looking forward.

Authors:  Kuntal Sen; Matthew Whitehead; Carlos Castillo Pinto; Ljubica Caldovic; Andrea Gropman
Journal:  Anal Biochem       Date:  2021-10-09       Impact factor: 3.365

3.  Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts.

Authors:  Michael S Oldham; John W VanMeter; Kyle F Shattuck; Stephen D Cederbaum; Andrea L Gropman
Journal:  Pediatr Neurol       Date:  2010-01       Impact factor: 3.372

Review 4.  Hereditary spastic paraparesis in adults associated with inborn errors of metabolism: a diagnostic approach.

Authors:  F Sedel; B Fontaine; J M Saudubray; O Lyon-Caen
Journal:  J Inherit Metab Dis       Date:  2007-10-22       Impact factor: 4.982

Review 5.  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

Review 6.  Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Interconnected Pathway of Glutamate and Urea Cycle Metabolism.

Authors:  Emanuele Panza; Diego Martinelli; Pamela Magini; Carlo Dionisi Vici; Marco Seri
Journal:  Front Neurol       Date:  2019-02-22       Impact factor: 4.003

Review 7.  Management of late onset urea cycle disorders-a remaining challenge for the intensivist?

Authors:  S Redant; A Empain; A Mugisha; P Kamgang; R Attou; P M Honoré; D De Bels
Journal:  Ann Intensive Care       Date:  2021-01-06       Impact factor: 6.925

8.  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
  8 in total

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