Literature DB >> 26078676

Harlequin ichthyosis: The third babies with harlequin ichthyosis in a family.

Mehmet Tekin1, Çapan Konca1, Zelal Kahramaner1, Aydın Erdemir1.   

Abstract

Entities:  

Year:  2014        PMID： 26078676      PMCID： PMC4462308          DOI： 10.5152/tpa.2014.1432

Source DB:  PubMed          Journal:  Turk Pediatri Ars


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  6 in total

1.  Oral acitretin treatment in severe congenital ichthyosis of the neonate.

Authors:  Z Nurhan Saraçoğlu; Neslihan Tekin; Selim M Urer; Ilham Sabuncu; Arif Akşit
Journal:  Turk J Pediatr       Date:  2002 Jan-Mar       Impact factor: 0.552

Review 2.  Management of ichthyosis and related conditions gene-based diagnosis and emerging gene-based therapy.

Authors:  Gabriele Richard; Keith Choate; Leonard Milstone; Sherri Bale
Journal:  Dermatol Ther       Date:  2013 Jan-Feb       Impact factor: 2.851

3.  Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer.

Authors:  Masashi Akiyama; Yoriko Sugiyama-Nakagiri; Kaori Sakai; James R McMillan; Maki Goto; Ken Arita; Yukiko Tsuji-Abe; Nobuko Tabata; Kentaro Matsuoka; Rikako Sasaki; Daisuke Sawamura; Hiroshi Shimizu
Journal:  J Clin Invest       Date:  2005-07       Impact factor: 14.808

4.  Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.

Authors:  Shefali Rajpopat; Celia Moss; Jemima Mellerio; Anders Vahlquist; Agneta Gånemo; Maritta Hellstrom-Pigg; Andrew Ilchyshyn; Nigel Burrows; Giles Lestringant; Aileen Taylor; Cameron Kennedy; David Paige; John Harper; Mary Glover; Philip Fleckman; David Everman; Mohamad Fouani; Hulya Kayserili; Diana Purvis; Emma Hobson; Carol Chu; Charles Mein; David Kelsell; Edel O'Toole
Journal:  Arch Dermatol       Date:  2011-02-21

Review 5.  The pathogenesis of severe congenital ichthyosis of the neonate.

Authors:  M Akiyama
Journal:  J Dermatol Sci       Date:  1999-09       Impact factor: 4.563

6.  Abnormal lamellar granules in harlequin ichthyosis.

Authors:  M E Milner; W M O'Guin; K A Holbrook; B A Dale
Journal:  J Invest Dermatol       Date:  1992-12       Impact factor: 8.551
  6 in total
  1 in total

Review 1.  Management of Harlequin Ichthyosis: A Brief Review of the Recent Literature.

Authors:  Maria Tsivilika; Dimitrios Kavvadas; Sofia Karachrysafi; Antonia Sioga; Theodora Papamitsou
Journal:  Children (Basel)       Date:  2022-06-15
  1 in total

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