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Graefe's Archive for Clinical and Experimental Ophthalmology, ISSN 0721-832X, 11/2018, Volume 256, Issue 11, pp. 2127 - 2134
Schnyder corneal dystrophy (SCD) is a rare inherited disease that leads to gradual vision loss by the deposition of lipids in the corneal stroma. The aim of... 
Pathogenic variant | UBIAD1 | Medicine & Public Health | Confocal microscopy | Ophthalmology | Schnyder corneal dystrophy | Optical coherent tomography | CHOLESTEROL | PHENOTYPE | FAMILY | METABOLISM | GENE | MUTATION | VITAMIN-K | OPHTHALMOLOGY | Medicine, Experimental | Medical research | Family | Lipids | Cornea | Corneal dystrophy | Stroma | Dystrophy | Localization | Age | Genetic screening | Index Medicus
Journal Article
Journal Article
Postepy Higieny i Medycyny Doswiadczalnej, ISSN 0032-5449, 2018, Volume 72, pp. 116 - 130
UbiA prenyltransferase domain-containing protein 1 (UBIAD1) is a transmembrane enzyme that plays an essential physiological role in the human body. The most... 
UBIAD1 | HMGCR | Schnyder corneal dystrophy | Coenzyme Q10 | Cholesterol | Vitamin K | cholesterol | koenzym Q10 | witamina K | dystrofia Schnydera
Journal Article
Journal Article
PLoS Pathogens, ISSN 1553-7366, 07/2012, Volume 8, Issue 7, pp. 23 - e1002833
Journal Article
PLoS ONE, ISSN 1932-6203, 12/2016, Volume 11, Issue 12, pp. e0166618 - e0166618
Journal Article
Journal Article
Frontiers in Microbiology, ISSN 1664-302X, 03/2018, Volume 9, pp. 392 - 392
Persistent genus β-HPV (human papillomavirus) infection is a major co-factor for non-melanoma skin cancer in patients suffering from the inherited skin disease... 
C/EBP | S100A8/A9 | Inflammation | Epidermodysplasia verruciformis | HPV | inflammation | epidermodysplasia verruciformis
Journal Article
Nephrology Dialysis Transplantation, ISSN 0931-0509, 05/2018, Volume 33, Issue suppl_1, pp. i598 - i599
Journal Article
International Journal of Cancer, ISSN 0020-7136, 05/2014, Volume 134, Issue 9, pp. 2061 - 2073
Journal Article
European Archives of Oto-Rhino-Laryngology, ISSN 0937-4477, 05/2016, Volume 273, Issue 5, pp. 1327 - 1328
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1007/s00405-015-3782-7 
OTORHINOLARYNGOLOGY | DEAFNESS | Connexins - genetics | Deafness | Mutation | Hearing Loss, Sensorineural | Humans | Hearing Loss | Index Medicus | Letter to the Editor
Journal Article
Journal Article