Literature DB >> 10714045

Autism and adenylosuccinase deficiency.

S L Stathis, D M Cowley, D Broe.   

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Year:  2000        PMID： 10714045     DOI： 10.1097/00004583-200003000-00007

Source DB:  PubMed          Journal:  J Am Acad Child Adolesc Psychiatry        ISSN： 0890-8567            Impact factor:   8.829


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  7 in total

Review 1.  Specific genetic disorders and autism: clinical contribution towards their identification.

Authors:  David Cohen; Nadège Pichard; Sylvie Tordjman; Clarisse Baumann; Lydie Burglen; Elsa Excoffier; Gabriela Lazar; Philippe Mazet; Clément Pinquier; Alain Verloes; Delphine Héron
Journal:  J Autism Dev Disord       Date:  2005-02

2.  Metabolic disorders of purine metabolism affecting the nervous system.

Authors:  H A Jinnah; Richard L Sabina; Georges Van Den Berghe
Journal:  Handb Clin Neurol       Date:  2013

Review 3.  Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature.

Authors:  Agnieszka Jurecka; Elzbieta Jurkiewicz; Anna Tylki-Szymanska
Journal:  Eur J Pediatr       Date:  2011-05-31       Impact factor: 3.183

4.  D-ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: absence of positive effect.

Authors:  A Jurecka; A Tylki-Szymanska; M Zikanova; J Krijt; S Kmoch
Journal:  J Inherit Metab Dis       Date:  2008-07-12       Impact factor: 4.982

5.  The G22A polymorphism of the ADA gene and susceptibility to autism spectrum disorders.

Authors:  Joe A Hettinger; Xudong Liu; Jeanette Jeltje Anne Holden
Journal:  J Autism Dev Disord       Date:  2007-03-06

Review 6.  Adenylosuccinate lyase deficiency.

Authors:  Agnieszka Jurecka; Marie Zikanova; Stanislav Kmoch; Anna Tylki-Szymańska
Journal:  J Inherit Metab Dis       Date:  2014-08-12       Impact factor: 4.982

7.  Novel mutations in ADSL for Adenylosuccinate Lyase Deficiency identified by the combination of Trio-WES and constantly updated guidelines.

Authors:  Xiao Mao; Kai Li; Beisha Tang; Yang Luo; Dongxue Ding; Yuwen Zhao; Chunrong Wang; Xiaoting Zhou; Zhenhua Liu; Yuan Zhang; Puzhi Wang; Qian Xu; Qiying Sun; Kun Xia; Xinxiang Yan; Hong Jiang; Shen Lu; Jifeng Guo
Journal:  Sci Rep       Date:  2017-05-09       Impact factor: 4.379
  7 in total

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