Literature DB >> 25532748

Clinico-radiological and genetic features of a common neuro-ichthyotic syndrome.

Puneet Jain1, Suvasini Sharma, Severine Drunat, Simon Samaan, Srishti Goel, Praveen Gulati, Satinder Aneja.   

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Year:  2014        PMID： 25532748     DOI： 10.1007/s12098-014-1663-5

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


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  5 in total

Review 1.  Sjögren-Larsson syndrome.

Authors:  Neil Gordon
Journal:  Dev Med Child Neurol       Date:  2007-02       Impact factor: 5.449

Review 2.  Recognition and diagnosis of neuro-ichthyotic syndromes.

Authors:  William B Rizzo; Sabrina Malone Jenkens; Philip Boucher
Journal:  Semin Neurol       Date:  2012-03-15       Impact factor: 3.420

Review 3.  Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.

Authors:  F Lamari; F Mochel; F Sedel; J M Saudubray
Journal:  J Inherit Metab Dis       Date:  2012-07-20       Impact factor: 4.982

4.  The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.

Authors:  W B Rizzo; G Carney; Z Lin
Journal:  Am J Hum Genet       Date:  1999-12       Impact factor: 11.025

Review 5.  Sjögren-Larsson syndrome in clinical practice.

Authors:  Joris Fuijkschot; Thomas Theelen; Marieke M B Seyger; Marinette van der Graaf; Imelda J M de Groot; Ron A Wevers; Ronald J A Wanders; Hans R Waterham; Michèl A A P Willemsen
Journal:  J Inherit Metab Dis       Date:  2012-07-26       Impact factor: 4.982
  5 in total
  1 in total

1.  Genotype and phenotype variability in Sjögren-Larsson syndrome.

Authors:  Maximilian Weustenfeld; Reiner Eidelpes; Matthias Schmuth; William B Rizzo; Johannes Zschocke; Markus A Keller
Journal:  Hum Mutat       Date:  2018-11-26       Impact factor: 4.878
  1 in total

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