Literature DB >> 20728092

Free sialic acid storage disease mimicking cerebral palsy and revealed by blood smear examination.

François-Guillaume Debray1, Caroline Lefebvre, Stéphanie Colinet, Karin Segers, René Stevens.   

Abstract

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Year:  2010        PMID： 20728092     DOI： 10.1016/j.jpeds.2010.06.057

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  2 in total

1.  Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation.

Authors:  Matthew A Lines; C Anthony Rupar; Jack W Rip; Berivan Baskin; Peter N Ray; Robert A Hegele; David Grynspan; Jean Michaud; Michael T Geraghty
Journal:  JIMD Rep       Date:  2013-07-31

2.  Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease.

Authors:  Maja Tarailo-Graovac; Britt I Drögemöller; Wyeth W Wasserman; Colin J D Ross; Ans M W van den Ouweland; Niklas Darin; Gittan Kollberg; Clara D M van Karnebeek; Maria Blomqvist
Journal:  Orphanet J Rare Dis       Date:  2017-02-10       Impact factor: 4.123
  2 in total

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