遗传性脂质代谢临床疾病。 - Suppr

Inherited clinical disorders of lipid metabolism.

作者信息

Elias Peter M, Williams Mary L, Crumrine Debra, Schmuth Matthias

出版信息

Curr Probl Dermatol. 2010;39:30-88. doi: 10.1159/000321084. Epub 2010 Sep 14.

DOI:10.1159/000321084

PMID:20838037

Abstract

摘要

相似文献

Inherited clinical disorders of lipid metabolism.

Curr Probl Dermatol. 2010;39:30-88. doi: 10.1159/000321084. Epub 2010 Sep 14.

Ichthyosis and neutral lipid storage disease.

Am J Med Genet. 1988 Feb;29(2):377-82. doi: 10.1002/ajmg.1320290219.

Hereditary metabolic cardiomyopathies.

Adv Pediatr. 1994;41:1-32.

Neutral lipid storage disease with ichthyosis. Defective lamellar body contents and intracellular dispersion.

Arch Dermatol. 1985 Aug;121(8):1000-8.

Ichthyosis and neutral lipid storage disease.

Am J Med Genet. 1985 Apr;20(4):711-26. doi: 10.1002/ajmg.1320200417.

[Ichthyosis with neutral lipid storage: Dorfman-Chanarin syndrome. Apropos of a familial case].

Ann Dermatol Venereol. 1993;120(11):758-60.

Molecular analysis of Chanarin-Dorfman syndrome (CDS) patients: Identification of novel mutations in the ABHD5 gene.

Eur J Med Genet. 2010 May-Jun;53(3):141-4. doi: 10.1016/j.ejmg.2010.03.002. Epub 2010 Mar 20.

[Disorders of lipid metabolism--sphingolipidoses].

Shinkei Kenkyu No Shimpo. 1971;15(2):350-8.

Neurological diseases in disorders of organic acids.

Curr Opin Neurol Neurosurg. 1992 Jun;5(3):349-54.

HEM dysplasia and ichthyosis are likely laminopathies and not due to 3beta-hydroxysterol Delta14-reductase deficiency.

Hum Mol Genet. 2007 May 15;16(10):1176-87. doi: 10.1093/hmg/ddm065. Epub 2007 Apr 2.

引用本文的文献

Factors influencing survival in sphingosine phosphate lyase insufficiency syndrome: a retrospective cross-sectional natural history study of 76 patients.

Orphanet J Rare Dis. 2024 Sep 27;19(1):355. doi: 10.1186/s13023-024-03311-w.

Children with atopic dermatitis show increased activity of β-glucocerebrosidase and stratum corneum levels of glucosylcholesterol that are strongly related to the local cytokine milieu.

Br J Dermatol. 2022 Jun;186(6):988-996. doi: 10.1111/bjd.20979. Epub 2022 Apr 5.

Cytogenetic and molecular analysis of distal 4q duplication with distinctive phenotype using single-nucleotide polymorphism array.

Mol Cytogenet. 2021 Sep 29;14(1):46. doi: 10.1186/s13039-021-00568-9.

Alterations of Ultra Long-Chain Fatty Acids in Hereditary Skin Diseases-Review Article.

Front Med (Lausanne). 2021 Aug 23;8:730855. doi: 10.3389/fmed.2021.730855. eCollection 2021.

Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes.

Mol Genet Metab. 2021 Feb;132(2):49-58. doi: 10.1016/j.ymgme.2021.01.002. Epub 2021 Jan 9.

Glucocerebrosidase: Functions in and Beyond the Lysosome.

J Clin Med. 2020 Mar 9;9(3):736. doi: 10.3390/jcm9030736.

Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment.

Am J Clin Dermatol. 2018 Feb;19(1):51-66. doi: 10.1007/s40257-017-0313-x.

Role of cholesterol sulfate in epidermal structure and function: lessons from X-linked ichthyosis.

Biochim Biophys Acta. 2014 Mar;1841(3):353-61. doi: 10.1016/j.bbalip.2013.11.009. Epub 2013 Nov 27.

Skin ultrastructural findings in type 2 Gaucher disease: diagnostic implications.

Mol Genet Metab. 2011 Dec;104(4):631-6. doi: 10.1016/j.ymgme.2011.09.008. Epub 2011 Sep 16.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

Inherited clinical disorders of lipid metabolism.

作者信息

出版信息

相似文献

引用本文的文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

相似文献

引用本文的文献