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Rare and hereditary disorders
Epidermolysis bullosa
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Publications and studies (1209)
- Attenuated Replication-Competent Herpes Simplex Virus Expressing an ECM-Modifying Transgene Hyaluronan Synthase 2 of Naked Mole Rat in Oncolytic Gene Therapy. (2023/10/29) ♡
- Dystonin modifiers of junctional epidermolysis bullosa and models of epidermolysis bullosa simplex without dystonia musculorum. (2023/10/26) ♡
- Correction to: The aggressive behaviour of squamous cell carcinoma in epidermolysis bullosa: analysis of clinical outcomes and tumour characteristics in the Dutch EB Registry. (2023/10/25) ♡
- 'It breaks my heart': Healthcare practitioners' caring for families with epidermolysis bullosa. (2023/10/24) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Gene and Cellular Therapies for Leukodystrophies. (2023/10/24) ♡
- Revolutionary breakthrough: FDA approves Vyjuvek, the first topical gene therapy for dystrophic epidermolysis bullosa. (2023/10/17) ♡
- CRISPR-Cas9-based non-viral gene editing therapy for topical treatment of recessive dystrophic epidermolysis bullosa. (2023/10/13) ♡
- Retrospective analysis of autoimmune bullous diseases in Middle Franconia. (2023/10/10) ♡
- Involvement of palms and soles in patients with autoimmune bullous diseases: a comparative analysis of a diagnostically relevant localization. (2023/10/10) ♡
- Temporal Changes in the Skin Microbiome of Epidermolysis Bullosa Patients following the Application of Wound Dressings. (2023/10/10) ♡
- CRISPR/Cas9-Mediated Generation of COL7A1-Deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa. (2023/10/09) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Functional analysis of Collagen 17a1: A genetic modifier of junctional epidermolysis bullosa in mice. (2023/10/05) ♡
- Epidermolysis Bullosa Dystrophica Inversa: Case Report of a Novel Genetic Mutation, Involving a Rare Genodermatoses. (2023/10/05) ♡
- Perception of Oral Health-Related Quality of Life in Children with Epidermolysis Bullosa: A Quantitative and Qualitative Study. (2023/10/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Misdiagnosis in Epidermolysis Bullosa: Yet Another Burden on Patients and their Families. (2023/10/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Paraneoplastic autoimmune Laminin-332 syndrome (PALS): Anti-Laminin-332 mucous membrane pemphigoid as a prototype. (2023/10/01) ♡
- Correction to: Birch Bark Extract: A Review in Epidermolysis Bullosa. (2023/10/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Immune-mediated oral mucosal pathology: a comprehensive review and update for clinicians. Part I. (2023/10/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Next-generation sequencing in dermatology. (2023/09/29) ♡
- Independent COL17A1 Variants in Cats with Junctional Epidermolysis Bullosa. (2023/09/22) ♡
- Clinical Characteristics and Outcomes of Patients Hospitalized with Epidermolysis Bullosa: A Retrospective Population-Based Observational Study in Spain (2016-2021). (2023/09/20) ♡
- C-type lectin receptor expression is a hallmark of neutrophils infiltrating the skin in epidermolysis bullosa acquisita. (2023/09/20) ♡
- Inflammation-mediated fibroblast activation and immune dysregulation in collagen VII-deficient skin. (2023/09/20) ♡
- Nail Whispers Revealing Dermatological and Systemic Secrets: An Analysis of Nail Disorders Associated With Diverse Dermatological and Systemic Conditions. (2023/09/11) ♡
- Genetic diagnosis of a rare COL7A1 variant causing dystrophic epidermolysis bullosa pruriginosa through whole-exome sequencing. (2023/09/11) ♡
- Treatment guidelineiAn official agreement between doctors about how this disease should be treated. This is not a single study but the conclusion of an entire medical field. Consensus-based guidelines for the provision of palliative and end-of-life care for people living with epidermolysis bullosa. (2023/09/04) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Impression technique modification and oral contracture release surgery for orthodontic treatment in a patient with severe microstomia due to recessive dystrophic epidermolysis bullosa. (2023/09/01) ♡
- Composite endpoints, including patient reported outcomes, in rare diseases. (2023/09/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Birch Bark Extract: A Review in Epidermolysis Bullosa. (2023/09/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Epidermolysis bullosa pruriginosa: A case report of two first cousins. (2023/09/01) ♡
- Differential diagnosis of stage 2, 3 and 4 pressure injuries of the pelvis and lower extremity: a case series. (2023/09/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Luteolin peracetate and gossypolone inhibit immune complex-mediated neutrophil activation in vitro and dermal-epidermal separation in an ex vivo model of epidermolysis bullosa acquisita. (2023/09/01) ♡
- A qualitative study on traditional healers' perceptions and management of epidermolysis bullosa. (2023/08/28) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Autoimmunity against laminin 332. (2023/08/10) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Epidermolysis Bullosa Simplex With Dystonin Gene Mutation: First Reported Case in Saudi Arabia. (2023/08/09) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Autosomal dominant albopapuloid epidermolysis bullosa pruriginosa. (2023/08/01) ♡
- Use of topical morphine gel in epidermolysis bullosa wounds—A series of case studies. (2023/08/01) ♡
- Esophageal dilation with EsoFLIP is faster than CRE balloon dilation combined with EndoFLIP in children. (2023/08/01) ♡
- Epidermolysis Bullosa-A Kindler Syndrome Case Report and Short Literature Review. (2023/07/30) ♡
- A Retrospective Study on the Clinical, Laboratory, and Nutritional Status of Pediatric Epidermolysis Bullosa in a Tertiary Referral Hospital in West Java, Indonesia. (2023/06/24) ♡
- Evaluation of Clinical and Oral Findings in Patients with Epidermolysis bullosa. (2023/06/21) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A case of epidermolysis bullosa simplex-Ogna with nail involvement. (2023/06/01) ♡
- Measuring the impact of pruritus in patients with epidermolysis bullosa: evaluation with an itch-specific instrument. (2023/05/18) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Epidermolysis bullosa acquisita with concomitant autoantibodies to α3 subunit of laminin 332. (2023/05/01) ♡
- Assessing pain catastrophizing and functional disability in pediatric epidermolysis bullosa patients. (2023/05/01) ♡
- Refractory Epidermolysis Bullosa Acquisita with Chronic Graft-versus-Host Disease Successfully Treated with Rituximab. (2023/05/01) ♡
- Assessment of nutrient intakes of children and adolescents with recessive dystrophic epidermolysis bullosa, severe subtype. (2023/04/20) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Novel frameshift mutation in the noncollagenous region of the COL7A1 gene in pretibial epidermolysis bullosa. (2023/04/01) ♡
- Our experience of using Losartan for esophageal stenosis in children with dystrophic form of congenital epidermolysis bullosa. (2023/04/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Bronchial involvement in mucous membrane pemphigoid: 2 cases and a literature review. (2023/03/01) ♡
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