Literature DB >> 12070256

Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency?

M Holder-Espinasse, S Marie, G Bourrouillou, I Ceballos-Picot, M-C Nassogne, L Faivre, J Amiel, A Munnich, M-F Vincent, V Cormier-Daire.   

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Year:  2002        PMID： 12070256      PMCID： PMC1735137          DOI： 10.1136/jmg.39.6.440

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  4 in total

1.  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 2.  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

3.  Misleading behavioural phenotype with adenylosuccinate lyase deficiency.

Authors:  Cyril Gitiaux; Irène Ceballos-Picot; Sandrine Marie; Vassili Valayannopoulos; Marlène Rio; Séverine Verrieres; Jean François Benoist; Marie Françoise Vincent; Isabelle Desguerre; Nadia Bahi-Buisson
Journal:  Eur J Hum Genet       Date:  2008-10-01       Impact factor: 4.246

Review 4.  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
  4 in total

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