Literature DB >> 9266401

Adenylosuccinase deficiency presenting with epilepsy in early infancy.

P D Maaswinkel-Mooij1, L A Laan, W Onkenhout, O F Brouwer, J Jaeken, B J Poorthuis.   

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Year:  1997        PMID： 9266401     DOI： 10.1023/a:1005323512982

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


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  5 in total

1.  Testing for Ancient Selection Using Cross-population Allele Frequency Differentiation.

Authors:  Fernando Racimo
Journal:  Genetics       Date:  2015-11-23       Impact factor: 4.562

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

4.  Substrate and product complexes of Escherichia coli adenylosuccinate lyase provide new insights into the enzymatic mechanism.

Authors:  May Tsai; Jason Koo; Patrick Yip; Roberta F Colman; Mark L Segall; P Lynne Howell
Journal:  J Mol Biol       Date:  2007-05-04       Impact factor: 5.469

5.  The structure of phosphate-bound Escherichia coli adenylosuccinate lyase identifies His171 as a catalytic acid.

Authors:  Guennadi Kozlov; Long Nguyen; Jessica Pearsall; Kalle Gehring
Journal:  Acta Crystallogr Sect F Struct Biol Cryst Commun       Date:  2009-08-20
  5 in total

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