U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 96

1.
A case of hyalinosis cutis et mucosae (lipoid proteinosis of Urbach and Wiethe) with common ancestors in four remote generations.
R C Juberg, P R Winder, L L Turk
J Med Genet. 1975 Mar; 12(1): 110–112. doi: 10.1136/jmg.12.1.110
PMCID:
PMC1013242
SummaryPage BrowsePDF–663KCite
2.
Lipoid Proteinosis: Identification of a Novel Nonsense Mutation c.1246C>T:p.R416X in ECM1 gene from Bangladesh
Md. Azraf Hossain Khan, Md. Abu Reza, Ibrahim Md. Sharaf, Md. Jahangir Alam, Md. Mostafizur Rahman, Pampa Chandra, Kazi Selim Anwar, Md. Abdus Salam
Pak J Med Sci. 2023 Jul-Aug; 39(4): 1212–1215. doi: 10.12669/pjms.39.4.7437
PMCID:
PMC10364261
ArticlePubReaderPDF–593KCite
3.
Identification of a Novel Mutation of Extracellular Matrix Protein 1 Gene in a Chinese Family with Lipoid Proteinosis
Mengjun Xu, Jiong Zhou, Jianliang Yan, Jianyou Wang
Clin Cosmet Investig Dermatol. 2023; 16: 1515–1519. Published online 2023 Jun 14. doi: 10.2147/CCID.S415682
PMCID:
PMC10277017
ArticlePubReaderPDF–954KCite
4.
Oral Manifestations and Dental Management Considerations of Lipoid Proteinosis: A Case Report and Review of Literature
Fatemeh Jahanimoghadam, Jelveh Hasheminejad
J Dent (Shiraz) 2022 Sep; 23(3): 321–326. doi: 10.30476/DENTJODS.2021.89748.1435
PMCID:
PMC9719597
ArticlePubReaderPDF–559KCite
5.
Assessment of dynamic thiol-disulfide homeostasis in patients with lipoid proteinosis (Urbach-Wiethe syndrome)
Seyhan Taskin, Hakim Celik, Abdullah Taskin, Mustafa Aksoy, Isa An, Yavuz Yesilova
Rev Assoc Med Bras (1992) 2022 Sep; 68(9): 1259–1263. Published online 2022 Sep 16. doi: 10.1590/1806-9282.20220333
PMCID:
PMC9575032
ArticlePubReaderPDF–327KCite
6.
Late presentation of laryngeal lipoid proteinosis: a case report and review of the literature
Danah F Alrusayyis, Abdulaziz K Alaraifi, Salwa Alhumaid, Abdul Latif Khan, Mohammed Elkrim
J Surg Case Rep. 2022 Aug; 2022(8): rjac360. Published online 2022 Aug 20. doi: 10.1093/jscr/rjac360
PMCID:
PMC9392577
ArticlePubReaderPDF–579KCite
7.
Lipoid proteinosis: Review of Indian cases
Jigna S Shah, Himali A Shah
J Oral Maxillofac Pathol. 2022 Apr-Jun; 26(2): 236–241. Published online 2022 Jun 28. doi: 10.4103/jomfp.jomfp_249_21
PMCID:
PMC9364649
ArticlePubReaderPDF–1.9MCite
8.
Ultrastructural aspects of the skin in lipoid proteinosis (Urbach-Wiethe disease)
Hiram Larangeira de Almeida, Jr, Raphael Goveia Rodeghiero, Patrícia Naomi Ando Suzuki, Marília Marufuji Ogawa
An Bras Dermatol. 2021 Nov-Dec; 96(6): 730–734. Published online 2021 Sep 17. doi: 10.1016/j.abd.2021.04.010
PMCID:
PMC8790196
ArticlePubReaderPDF–5.4MCite
9.
Urbach–Wiethe disease: Hyalinosis cutis et mucosae
Prabrisha Banerjee, Bipasha Mukherjee
Oman J Ophthalmol. 2021 Sep-Dec; 14(3): 196–197. Published online 2021 Oct 20. doi: 10.4103/ojo.ojo_29_21
PMCID:
PMC8597819
ArticlePubReaderCite
10.
Lipoid Proteinosis Masquerading as Seborrheic Dermatitis
Alka Tripathi, Sunil Kumar Gupta
Cureus. 2021 Jun; 13(6): e15617. Published online 2021 Jun 13. doi: 10.7759/cureus.15617
PMCID:
PMC8276531
ArticlePubReaderPDF–641KCite
11.
Amygdalae and Striatum Calcification in Lipoid Proteinosis
F.G. Gonçalves, M.B. de Melo, V. de L. Matos, F.R. Barra, R.E. Figueroa
AJNR Am J Neuroradiol. 2010 Jan; 31(1): 88–90. doi: 10.3174/ajnr.A1699
PMCID:
PMC7964074
ArticlePubReaderPDF–555KCite
12.
Lipoid Proteinosis presenting as beaded papules of the eyelid: report of three cases
Zhenyu Wei, Antoine Labbe, Qingfeng Liang
BMC Ophthalmol. 2021; 21: 35. Published online 2021 Jan 13. doi: 10.1186/s12886-021-01802-z
PMCID:
PMC7805162
ArticlePubReaderPDF–5.6MCite
13.
Lipoid Proteinosis with Esotropia: Report of a Rare Case and Dermoscopic Findings
Hera Tabassum, Sabha Mushtaq, Syed Suhail Amin, Mohammad Adil, Mohammad Mohtashim, Kafil Akhtar
Indian J Dermatol. 2020 Jan-Feb; 65(1): 53–56. doi: 10.4103/ijd.IJD_523_18
PMCID:
PMC6986117
ArticlePubReaderCite
14.
Extracellular Matrix Protein 1 Gene Mutation in Turkish Patients with Lipoid Proteinosis
Selma Bakar Dertlioğlu, Tuba Gökdoğan Edgünlü, Deniz Erol Şen, Tuğba Önal Süzek
Indian J Dermatol. 2019 Nov-Dec; 64(6): 436–440. doi: 10.4103/ijd.IJD_365_18
PMCID:
PMC6862362
ArticlePubReaderCite
15.
A novel nonsense mutation in exon 9 in the extracellular matrix protein 1 gene associated with lipoid proteinosis: A case report
Feras M Ghazawi, Etienne Saint-Cyr Proulx, Fatemeh Jafarian
SAGE Open Med Case Rep. 2019; 7: 2050313X19850359. Published online 2019 May 19. doi: 10.1177/2050313X19850359
PMCID:
PMC6537054
ArticlePubReaderPDF–397KCite
16.
Pathogenetic mechanism of lipoid proteinosis caused by mutation of the extracellular matrix protein 1 gene
Dong Gao, Xianying Ma, Peiwen Lian, Surong Zhou, Jian Chen
Mol Med Rep. 2019 Apr; 19(4): 2969. Published online 2019 Feb 1. doi: 10.3892/mmr.2019.9925
Retracts:
Mol Med Rep. 2018 Apr 24
PMCID:
PMC6423551
RetractionPubReaderPDF–592KCite
17.
Vesiculobullous eruption revealing lipoid proteinosis: A potential diagnostic pitfall. A case report and a brief review
Anissa Zaouak, Hela Zribi, Dalenda Eleuch, Mourad Mokni
Int J Pediatr Adolesc Med. 2015 Sep-Dec; 2(3-4): 157–160. Published online 2015 Sep 25. doi: 10.1016/j.ijpam.2015.08.003
PMCID:
PMC6372403
ArticlePubReaderPDF–1.2MCite
18.
Lipoid Proteinosis: Skin Resurfacing with Combination of Fractional CO2 and Non-ablative Radio Frequency: A Rare Case Report
Chandraiah Madura, Arti Priya, Byalekere Shivanna Chandrashekar
J Cutan Aesthet Surg. 2018 Apr-Jun; 11(2): 91–94. doi: 10.4103/JCAS.JCAS_29_18
PMCID:
PMC6128159
ArticlePubReaderCite
19.
Esophageal Aperistalsis in a Patient with Lipoid Proteinosis
Behrooz Afshar, Anahita Sadeghi, Mohammad Amani, Ali Ali Asgari
Middle East J Dig Dis. 2018 Jan; 10(1): 55–58. Published online 2018 Jan 14. doi: 10.15171/mejdd.2017.92
PMCID:
PMC5903930
ArticlePubReaderPDF–655KCite
20.
Lipoid Proteinosis
Hitesh C Mittal, Sunil Yadav, Sunita Malik, Gurdarshan Singh
Int J Clin Pediatr Dent. 2016 Apr-Jun; 9(2): 149–151. Published online 2016 Jun 15. doi: 10.5005/jp-journals-10005-1353
PMCID:
PMC4921886
ArticlePubReaderPDF–827KCite

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center