Results 131 to 140 of about 36,363 (277)

Epidermolysis Bullosa [PDF]

Ear, Nose & Throat Journal, 2007
James, Lin, Jose N, Fayad
openaire   +2 more sources

Пограничный локализованный буллезный эпидермолиз: случай поздней диагностики [PDF]

, 2015
ЭПИДЕРМОЛИЗ БУЛЛЕЗНЫЙ ...
Лесничая, О. В., Пушкарская, И. А., Тихоновская, И. В.   +2 more
core  

Assessment of the Timing of Milestone Clinical Events in Patients With Epidermolysis Bullosa From North America

JAMA dermatology, 2019
Importance Children with epidermolysis bullosa (EB) comprise a rare population with high morbidity and mortality. An improved understanding of the clinical trajectory of patients with EB, including age at time of clinical diagnosis and major clinical ...
J. Feinstein, Purevsuren Jambal, K. Peoples, A. Lucky, P. Khuu, Jean Y. Tang, I. Lara‐Corrales, E. Pope, K. Wiss, K. Hook, L. Levin, Kimberly D Morel, A. Paller, C. McCuaig, J. Powell, L. Eichenfield, H. Price, M. Levy, L. Schachner, J. Browning, Susan J. Bayliss, M. Jahnke, T. Shwayder, S. Glick, A. Bruckner   +24 more
semanticscholar   +1 more source

Preimplantation Genetic Diagnosis for DEB by Detecting a Novel Family-Specific COL7A1 Mutation in Vietnam

The Application of Clinical Genetics, 2021
Sang Trieutien,1,* Tam Vu Van,2,3,* My Tran Ngoc Thao,4 Son Trinh The,5 Khoa Tran Van,1 Tung Nguyen Thanh,5 Tuan Tran Van,5 Hanh Nguyen Thi6 1Department of Biology and Genetics, Vietnam Military Medical University, Hanoi, 12108, Vietnam ...
Trieutien S, Vu Van T, Tran Ngoc Thao M, Trinh The S, Tran Van K, Nguyen Thanh T, Tran Van T, Nguyen Thi H   +7 more
doaj  

Lentiviral Engineered Fibroblasts Expressing Codon Optimized COL7A1 Restore Anchoring Fibrils in RDEB [PDF]

, 2016
Cells therapies, engineered to secrete replacement proteins, are being developed to ameliorate otherwise debilitating diseases. Recessive dystrophic epidermolysis bullosa (RDEB) is caused by defects of type VII collagen (C7), a protein essential for ...
Abdul-Wahab, A, Chan, L, Chen, M, Di, WL, Farzaneh, F, Fleck, RA, Georgiadis, C, Ghani, S, Glover, L, Lwin, SM, McGrath, JA, McMillan, JR, Petrova, A, Qasim, W, Syed, F, Thrasher, AJ   +15 more
core  

Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex [PDF]

, 2017
PLEC, the gene encoding the cytolinker protein plectin, has eight tissue-specific isoforms in humans, arising by alternate splicing of the first exon. To date, all PLEC mutations that cause epidermolysis bullosa simplex (EBS) were found in exons common ...
Castañón, Maria J., Gostyńska, Katarzyna B., Jonkman, Marcel F., Lang, Kristin Kernland, Lemmink, Henny, Nijenhuis, Miranda, Pas, Hendri H., Pasmooij, Anna M.G., Wiche, Gerhard   +8 more
core  

Effectiveness and Safety of Rituximab in Recalcitrant Pemphigoid Diseases [PDF]

, 2018
Introduction: Rituximab (RTX) is a monoclonal antibody targeting CD20, a transmembrane protein expressed on B cells, causing B cell depletion. RTX has shown great efficacy in studies of pemphigus vulgaris, but data of pemphigoid diseases are limited ...
Euverman, H. Ilona, Horvath, Barbara, Jonkman, Marcel F., Lamberts, Aniek, Terra, Jorrit B.   +4 more
core   +2 more sources

Newer Treatment Modalities in Epidermolysis Bullosa

Indian Dermatology Online Journal, 2019
The term epidermolysis bullosa (EB) refers to a group of hereditary skin blistering diseases. The group is clinically and genetically heterogeneous, but all EB forms are associated with mechanically induced skin blistering and fragility.
L. Bruckner-Tuderman
semanticscholar   +1 more source

Infant Spinal Anesthesia for Urologic Surgery in a Patient With Epidermolysis Bullosa

Case Reports in Anesthesiology
Infant spinal anesthesia presents a viable alternative to general anesthesia for short procedures below the umbilicus. This technique eliminates the need for airway instrumentation while preserving hemodynamic and respiratory parameters.
Alexander B. Froyshteter, Jillian A. Dibiase, Catherine M. Seager, Alina Lazar   +3 more
doaj   +1 more source

Bone marrow transplant with post‐transplant cyclophosphamide for recessive dystrophic epidermolysis bullosa expands the related donor pool and permits tolerance of nonhaematopoietic cellular grafts

British Journal of Dermatology, 2019
Recessive dystrophic epidermolysis bullosa (RDEB) is a severe systemic genodermatosis lacking therapies beyond supportive care for its extensive, life‐limiting manifestations.
C. Ebens, John A. McGrath, Katsuto Tamai, Alain Hovnanian, John E. Wagner, M. Riddle, Douglas R. Keene, T. Defor, Rebecca K Tryon, Mei Chen, D. Woodley, Kristen P Hook, Jakub Tolar   +12 more
semanticscholar   +1 more source