Literature DB >> 20625172

Arginine:glycine amidinotransferase deficiency: a treatable metabolic encephalomyopathy.

Ashok Verma1.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2010        PMID： 20625172     DOI： 10.1212/WNL.0b013e3181e7cabd

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


× No keyword cloud information.
  3 in total

Review 1.  X-linked creatine transporter deficiency: clinical aspects and pathophysiology.

Authors:  Jiddeke M van de Kamp; Grazia M Mancini; Gajja S Salomons
Journal:  J Inherit Metab Dis       Date:  2014-05-01       Impact factor: 4.982

2.  Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.

Authors:  J Daniel Sharer; Olaf Bodamer; Nicola Longo; Silvia Tortorelli; Mirjam M C Wamelink; Sarah Young
Journal:  Genet Med       Date:  2017-01-05       Impact factor: 8.822

3.  Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency.

Authors:  Roberta Battini; M Grazia Alessandrì; Claudia Casalini; Manuela Casarano; Michela Tosetti; Giovanni Cioni
Journal:  Orphanet J Rare Dis       Date:  2017-02-02       Impact factor: 4.123
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.