一名患有法伯脂肪肉芽肿病的儿科患者的新型皮肤表现。 - Suppr

Novel cutaneous manifestations of a pediatric patient with Farber lipogranulomatosis.

作者信息

Alhomida Faris A, Alharthi Raghad, Almutairi Ahmed, AlDosari Dalal A, Barakeh Maee, Dilli Ahmed, Barakeh Maha, Shadid Asem, Dakhil Alhanouf Bin, AlAkrash Lamia

机构信息

Department of Dermatology, King Fahad Medical City, Riyadh, Saudi Arabia.

Department of Dermatology, King Abdulaziz Medical City, Riyadh, Saudi Arabia.

出版信息

JAAD Case Rep. 2024 May 7;51:45-47. doi: 10.1016/j.jdcr.2024.04.040. eCollection 2024 Sep.

DOI:10.1016/j.jdcr.2024.04.040

PMID:39185024

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11342741/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc37/11342741/9da5374f5b6e/gr1.jpg

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Novel cutaneous manifestations of a pediatric patient with Farber lipogranulomatosis.一名患有法伯脂肪肉芽肿病的儿科患者的新型皮肤表现。

JAAD Case Rep. 2024 May 7;51:45-47. doi: 10.1016/j.jdcr.2024.04.040. eCollection 2024 Sep.

[Farber's lipogranulomatosis].[法伯尔脂肪肉芽肿病]

Nihon Rinsho. 1995 Dec;53(12):3009-13.

Neurodegenerative course in ceramidase deficiency (Farber disease) correlates with the residual lysosomal ceramide turnover in cultured living patient cells.神经酰胺酶缺乏症（法伯病）中的神经退行性病程与培养的活体患者细胞中残余的溶酶体神经酰胺周转相关。

J Neurol Sci. 1995 Dec;134(1-2):108-14. doi: 10.1016/0022-510x(95)00231-0.

Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: identification of the first large deletion in ASAH1 gene.新生儿型法伯病酸性神经酰胺酶缺乏症的分子基础：在 ASAH1 基因中鉴定出首个大片段缺失。

Mol Genet Metab. 2013 Jul;109(3):276-81. doi: 10.1016/j.ymgme.2013.04.019. Epub 2013 May 4.

[A case report of childhood Farber's disease and literature review].[儿童法伯病病例报告及文献综述]

Zhonghua Er Ke Za Zhi. 2017 Jan 2;55(1):54-58. doi: 10.3760/cma.j.issn.0578-1310.2017.01.011.

Acid Sphingomyelinase Deficiency Ameliorates Farber Disease.酸性鞘磷脂酶缺乏症可改善法伯病。

Int J Mol Sci. 2019 Dec 11;20(24):6253. doi: 10.3390/ijms20246253.

An autopsy case of Farber's lipogranulomatosis in a Japanese boy with gastrointestinal involvement.

Acta Pathol Jpn. 1992 Jan;42(1):42-8. doi: 10.1111/j.1440-1827.1992.tb01109.x.

Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease.简要报告：与 ASAH1（酸性鞘磷脂酶）突变相关的成人外周骨溶解症：法伯病的一种新表现。

Arthritis Rheumatol. 2016 Sep;68(9):2323-7. doi: 10.1002/art.39659. Epub 2016 Jul 29.

Farber lipogranulomatosis type 1--late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation.法伯脂肉芽肿病 1 型——1 例新型纯合 ASAH1 突变的克罗地亚男孩的晚发和早逝。

Eur J Paediatr Neurol. 2011 Mar;15(2):171-3. doi: 10.1016/j.ejpn.2010.06.002. Epub 2010 Jul 7.

Abnormalities of lysosomes in human diploid fibroblasts from patients with Farber's disease.法伯病患者人二倍体成纤维细胞中溶酶体的异常。

Biochim Biophys Acta. 1982 Oct 8;718(2):185-92. doi: 10.1016/0304-4165(82)90218-5.

本文引用的文献

Farber Disease Mimicking Juvenile Idiopathic Arthritis: The First Reported Case in Qatar and Review of the Literature.模仿青少年特发性关节炎的法伯病：卡塔尔首例报告病例及文献综述

Case Rep Genet. 2022 Feb 10;2022:2555235. doi: 10.1155/2022/2555235. eCollection 2022.

Acid ceramidase deficiency: Farber disease and SMA-PME.酸性神经酰胺酶缺乏症：法伯病和 SMA-PME。

Orphanet J Rare Dis. 2018 Jul 20;13(1):121. doi: 10.1186/s13023-018-0845-z.

Pathological manifestations of Farber disease in a new mouse model.法伯病新型小鼠模型的病理学表现。

Biol Chem. 2018 Sep 25;399(10):1183-1202. doi: 10.1515/hsz-2018-0170.

Farber disease: clinical presentation, pathogenesis and a new approach to treatment.法伯病：临床表现、发病机制及一种新的治疗方法。

Pediatr Rheumatol Online J. 2007 Jun 29;5:15. doi: 10.1186/1546-0096-5-15.

Association of dermal melanocytosis with lysosomal storage disease: clinical features and hypotheses regarding pathogenesis.皮肤黑素细胞增多症与溶酶体贮积病的关联：临床特征及发病机制假说

Arch Dermatol. 2003 Jul;139(7):916-20. doi: 10.1001/archderm.139.7.916.

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Novel cutaneous manifestations of a pediatric patient with Farber lipogranulomatosis.

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