Literature DB >> 12709150

Infantile sialic acid storage disease (ISSD): report of the first case detected in Poland.

Anna Tylki-Szymańska1, Barbara Czartoryska, Agnieszka Lugowska, Frans W Verheijen, Grazia M S Mancini, Dariusz Rokicki, Joanna Taybert, Elzbieta Chmielíńska.   

Abstract

Entities:  

Mesh：

Year:  2003        PMID： 12709150     DOI： 10.1046/j.1442-200x.2003.01693.x

Source DB:  PubMed          Journal:  Pediatr Int        ISSN： 1328-8067            Impact factor:   1.524


× No keyword cloud information.
  2 in total

1.  Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero.

Authors:  R Froissart; D Cheillan; R Bouvier; S Tourret; V Bonnet; M Piraud; I Maire
Journal:  J Med Genet       Date:  2005-04-01       Impact factor: 6.318

2.  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 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.