Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Gabriela Petrof"'
Publikováno v:
JEADV Clinical Practice, Vol 3, Iss 2, Pp 611-615 (2024)
Abstract Background Epidermolysis bullosa (EB) is an inherited genodermatosis of variable severity characterised by skin and mucosal fragility commonly associated with altered gait patterns and hypermobility. Objectives To define the altered gait pat
Externí odkaz:
https://doaj.org/article/02899f2c01a84bcaad8bbdd7d6004800
Autor:
Dimitra Kiritsi, Kathrin Dieter, Elke Niebergall-Roth, Silvia Fluhr, Cristina Daniele, Jasmina Esterlechner, Samar Sadeghi, Seda Ballikaya, Leoni Erdinger, Franziska Schauer, Stella Gewert, Martin Laimer, Johann W. Bauer, Alain Hovnanian, Giovanna Zambruno, May El Hachem, Emmanuelle Bourrat, Maria Papanikolaou, Gabriela Petrof, Sophie Kitzmüller, Christen L. Ebens, Markus H. Frank, Natasha Y. Frank, Christoph Ganss, Anna E. Martinez, John A. McGrath, Jakub Tolar, Mark A. Kluth
Publikováno v:
JCI Insight, Vol 6, Iss 22 (2021)
BACKGROUND Recessive dystrophic epidermolysis bullosa (RDEB) is a rare, devastating, and life-threatening inherited skin fragility disorder that comes about due to a lack of functional type VII collagen, for which no effective therapy exists. ABCB5+
Externí odkaz:
https://doaj.org/article/b73355f8e6714783859f9acfbd51109d
Publikováno v:
Clinical and Experimental Dermatology. 48:188-192
BackgroundChildren and adolescents with severe recessive dystrophic epidermolysis bullosa (RDEB-S) often have severe constipation in addition to gastrointestinal dysbiosis, due to frequent antibiotic use and reduced oral diet. Constipation is treated
Autor:
Gabriela Petrof, Anna E Martinez
Publikováno v:
British Journal of Dermatology.
Publikováno v:
Clinical and Experimental Dermatology. 47:1307-1313
Paediatric patients with recessive dystrophic epidermolysis bullosa (RDEB) are at risk of vitamin D deficiency, owing to lack of sunlight from reduced mobility and having large areas of skin being covered with dressings, and to impaired nutritional i
Autor:
Anna E. Martinez, Lu Liu, D T Greenblatt, Gabriela Petrof, S J Robertson, Jemima E. Mellerio, C Prodinger, C Skilbeck
Publikováno v:
Clinical and Experimental Dermatology. 47:717-723
Summary Background The rare inversa subtype of recessive dystrophic epidermolysis bullosa (RDEB-I) is characterized by predominant intertriginous skin blistering and marked mucosal involvement. Specific recessive missense mutations in the collagen VI
Autor:
Christine Prodinger, Natalie Yerlett, Cassie MacDonald, Subhanitthaya Chottianchaiwat, Leanne Goh, George Du Toit, Jemima E. Mellerio, Gabriela Petrof, Anna E. Martinez
Publikováno v:
Pediatric Allergy and Immunology. 34
Autor:
Maria Laura Bageta, Eliana Cella, Andrea Bettina Cervini, María Del Valle Centeno, Liliana Roquel, John B. Mee, Richard W. Groves, Eduardo Calonje, Richard G. Goodwin, Jemima E. Mellerio, Gabriela Petrof, Anna E. Martinez
Publikováno v:
Clinical and experimental dermatologyReferences. 47(7)
Epidermolysis bullosa acquisita is a highly uncommon condition in the paediatric population. This article describes three children with this disease, different clinical presentation and management. It also reviews the most relevant articles on this t
Autor:
Gabriela Petrof, Maria Papanikolaou, Anna E. Martinez, Jemima E. Mellerio, John A. McGrath, Ajoy Bardhan, Natasha Harper, Adrian Heagerty, Malobi Ogboli, Christopher Chiswell, Celia Moss
Publikováno v:
The British journal of dermatologyReferences. 186(5)
The National Health Service (NHS) epidermolysis bullosa (EB) service, established in 2002, offers comprehensive, free care to all patients in England and Wales.To quantify prevalence, incidence and mortality of EB in England and Wales.Demographic dat
Autor:
Natalie Yerlett, Hsin-Chin Shen, Zhongjie Ma, Ling Qin, Anna Martinez, Gabriela Petrof, Yun Fu, Dean Mohamedally, Shankar Sridharan, Neil J Sebire, Sheena Visram
Publikováno v:
Oral presentations.