Literature DB >> 25087691

Chanarin-Dorfman syndrome in three siblings in a non-consanguineous family.

E Gomez-Moyano1, D J Godoy-Diaz1, L Ponce-Verdugo2, A Sanz-Trelles3, A Vera-Casaño1, C Sierra-Salinas4.   

Abstract

Mesh：

Year:  2014        PMID： 25087691     DOI： 10.1111/jdv.12651

Source DB:  PubMed          Journal:  J Eur Acad Dermatol Venereol        ISSN： 0926-9959            Impact factor:   6.166


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  3 in total

1.  Dorfman-Chanarin Syndrome: A Rare Cause of Metabolic Associated Fatty Liver Disease Related to Homozygosity of the Nonsense Mutation c.934C>T (p.R312*).

Authors:  Rita Quelhas da Costa; Francisco Laranjeira; Isaura Duarte Ribeiro; António Filipe Santos; Filipe Nery
Journal:  GE Port J Gastroenterol       Date:  2021-07-07

Review 2.  Neutral Lipid Storage Diseases as Cellular Model to Study Lipid Droplet Function.

Authors:  Sara Missaglia; Rosalind A Coleman; Alvaro Mordente; Daniela Tavian
Journal:  Cells       Date:  2019-02-21       Impact factor: 6.600

Review 3.  Proposal for a 6-step approach for differential diagnosis of neonatal erythroderma.

Authors:  E Cuperus; A Bygum; L Boeckmann; C Bodemer; M C Bolling; M Caproni; A Diociaiuti; S Emmert; J Fischer; A Gostynski; S Guez; M E van Gijn; K Hannulla-Jouppi; C Has; A Hernández-Martín; A E Martinez; J Mazereeuw-Hautier; M Medvecz; I Neri; V Sigurdsson; K Suessmuth; H Traupe; V Oji; S G M A Pasmans
Journal:  J Eur Acad Dermatol Venereol       Date:  2022-03-15       Impact factor: 9.228
  3 in total

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