一例致死性丑角鱼鳞病病例报告：对感染性及呼吸道并发症的见解 - Suppr

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A case report of fatal harlequin ichthyosis: Insights into infectious and respiratory complications.

作者信息

Parikh Kruti, Brar Kanwaljit, Glick Jaimie B, Flamm Alexandra, Glick Sharon A

机构信息

Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey.

Department of Pediatrics, Division of Allergy & Immunology, National Jewish Health, Denver, Colorado.

出版信息

JAAD Case Rep. 2016 Aug 3;2(4):301-3. doi: 10.1016/j.jdcr.2016.06.011. eCollection 2016 Jul.

DOI:10.1016/j.jdcr.2016.06.011

PMID:27536717

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4976614/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c3d3/4976614/461d603967e0/gr1.jpg

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Pseudomonas aeruginosa outbreaks in the neonatal intensive care unit--a systematic review of risk factors and environmental sources.

J Med Microbiol. 2012 Aug;61(Pt 8):1052-1061. doi: 10.1099/jmm.0.044818-0. Epub 2012 Jun 8.

ABCA12 maintains the epidermal lipid permeability barrier by facilitating formation of ceramide linoleic esters.

J Biol Chem. 2008 Dec 26;283(52):36624-35. doi: 10.1074/jbc.M807377200. Epub 2008 Oct 27.

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Localization of ABCA12 from Golgi apparatus to lamellar granules in human upper epidermal keratinocytes.

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A review of harlequin ichthyosis.

Neonatal Netw. 2005 May-Jun;24(3):17-23. doi: 10.1891/0730-0832.24.3.17.

Harlequin baby with ecthyma gangrenosum.

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相似文献

A case report of fatal harlequin ichthyosis: Insights into infectious and respiratory complications.

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Identification of novel mutations in the ABCA12 gene, c.1857delA and c.5653-5655delTAT, causing harlequin ichthyosis.

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Compound heterozygous mutations with novel missense mutation in harlequin ichthyosis.

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ABCA12 homozygous mutation in harlequin ichthyosis: Survival without systemic retinoids.

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Localization of ABCA12 from Golgi apparatus to lamellar granules in human upper epidermal keratinocytes.

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ABCA12 is the major harlequin ichthyosis gene.

J Invest Dermatol. 2006 Nov;126(11):2408-13. doi: 10.1038/sj.jid.5700455. Epub 2006 Aug 10.

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Neonatal Netw. 2005 May-Jun;24(3):17-23. doi: 10.1891/0730-0832.24.3.17.

Harlequin baby with ecthyma gangrenosum.

Pediatr Dermatol. 2003 Nov-Dec;20(6):529-30. doi: 10.1111/j.1525-1470.2003.20616.x.