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Tytuł:
Emerging Gene Therapeutics for Epidermolysis Bullosa under Development.
Autorzy:
Bischof J; EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria.
Hierl M; EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria.; Department of Biosciences and Medical Biology, University of Salzburg, 5020 Salzburg, Austria.
Koller U; EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Feb 13; Vol. 25 (4). Date of Electronic Publication: 2024 Feb 13.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Epidermolysis Bullosa*/genetics
Epidermolysis Bullosa*/therapy
Epidermolysis Bullosa*/pathology
Humans ; Skin/metabolism ; Epidermis/metabolism ; Blister ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A case of junctional epidermolysis bullosa intermediate with collagen XVII deficiency treated with dupilumab.
Autorzy:
Zhang L; Department of Dermatology, Huashan Hospital, Fudan University, Shanghai, P.R. China.
Wang S; Department of Dermatology, Huashan Hospital, Fudan University, Shanghai, P.R. China.
Chen Q; Department of Dermatology, Huashan Hospital, Fudan University, Shanghai, P.R. China.
Xiang L; Department of Dermatology, Huashan Hospital, Fudan University, Shanghai, P.R. China.
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Źródło:
The Journal of dermatological treatment [J Dermatolog Treat] 2023 Dec; Vol. 34 (1), pp. 2253943. Date of Electronic Publication: 2023 Nov 15.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Epidermolysis Bullosa, Junctional*/drug therapy
Epidermolysis Bullosa, Junctional*/genetics
Epidermolysis Bullosa Dystrophica*/drug therapy
Epidermolysis Bullosa Dystrophica*/genetics
Epidermolysis Bullosa*/genetics
Humans ; Skin/metabolism ; Non-Fibrillar Collagens ; Collagen Type XVII
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Clinical and molecular studies in two patients with dystrophic epidermolysis bullosa.
Autorzy:
Ramesh A; Department of Dermatology, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India.
Hongal A; Department of Dermatology, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India.
Srinivasa M; Centre for Human Genetics, Bengaluru, Karnataka, India.
Desai S; Centre for Human Genetics, Bengaluru, Karnataka, India.
Mala R; Centre for Human Genetics, Bengaluru, Karnataka, India.
Jayashankar CK; Centre for Human Genetics, Bengaluru, Karnataka, India.
Abhigna R; Department of Dermatology, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India.
Jyothi V; Department of Dermatology, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India.
Asha K; Department of Dermatology, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India.
Meenakshi B; Delhi Dermpath Laboratory, New Delhi, India.
Ravi H; Centre for Human Genetics, Bengaluru, Karnataka, India.
Gurudatta BV; Department of Dermatology, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India.
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Źródło:
Indian journal of dermatology, venereology and leprology [Indian J Dermatol Venereol Leprol] 2023 Nov-Dec; Vol. 89 (6), pp. 880-883.
Typ publikacji:
Case Reports; Letter
MeSH Terms:
Epidermolysis Bullosa Dystrophica*
Epidermolysis Bullosa*
Humans ; Skin
Raport
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Itch in recessive dystrophic epidermolysis bullosa: findings of PEBLES, a prospective register study.
Autorzy:
Mellerio JE; St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust, Westminster Bridge Road, London, SE1 7EH, UK. .; Genetic Skin Disease Group, King's College London, London, UK. .
Pillay EI; St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust, Westminster Bridge Road, London, SE1 7EH, UK.
Ledwaba-Chapman L; Department of Population Health Sciences, King's College London, London, UK.
Bisquera A; Department of Population Health Sciences, King's College London, London, UK.
Robertson SJ; Departments of Dermatology, The Royal Children's Hospital, The Royal Melbourne Hospital and Monash Health, Melbourne, Australia.
Papanikolaou M; Genetic Skin Disease Group, King's College London, London, UK.
McGrath JA; Genetic Skin Disease Group, King's College London, London, UK.
Wang Y; Department of Population Health Sciences, King's College London, London, UK.
Martinez AE; Department of Dermatology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Jeffs E; St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust, Westminster Bridge Road, London, SE1 7EH, UK.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Aug 09; Vol. 18 (1), pp. 235. Date of Electronic Publication: 2023 Aug 09.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Epidermolysis Bullosa Dystrophica*/complications
Epidermolysis Bullosa*/complications
Humans ; Quality of Life ; Pruritus ; Prospective Studies
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Dystonin modifiers of junctional epidermolysis bullosa and models of epidermolysis bullosa simplex without dystonia musculorum.
Autorzy:
Sproule TJ; The Jackson Laboratory, Bar Harbor, ME, United States of America.
Wilpan RY; The Jackson Laboratory, Bar Harbor, ME, United States of America.
Wilson JJ; The Jackson Laboratory, Bar Harbor, ME, United States of America.
Low BE; The Jackson Laboratory, Bar Harbor, ME, United States of America.
Kabata Y; Division of Dermatology, Graduate School of Medical and Dental Sciences, Niigata University, Niigata, Japan.; Division of Microscopic Anatomy, Graduate School of Medical and Dental Sciences, Niigata University, Niigata, Japan.
Ushiki T; Division of Microscopic Anatomy, Graduate School of Medical and Dental Sciences, Niigata University, Niigata, Japan.
Abe R; Division of Dermatology, Graduate School of Medical and Dental Sciences, Niigata University, Niigata, Japan.
Wiles MV; The Jackson Laboratory, Bar Harbor, ME, United States of America.
Roopenian DC; The Jackson Laboratory, Bar Harbor, ME, United States of America.
Sundberg JP; The Jackson Laboratory, Bar Harbor, ME, United States of America.; Department of Dermatology, Vanderbilt University Medical Center, Nashville, TN, United States of America.
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Źródło:
PloS one [PLoS One] 2023 Oct 26; Vol. 18 (10), pp. e0293218. Date of Electronic Publication: 2023 Oct 26 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Dystonia*/genetics
Dystonia*/metabolism
Dystonic Disorders*/metabolism
Epidermolysis Bullosa*/genetics
Epidermolysis Bullosa Simplex*/diagnosis
Epidermolysis Bullosa Simplex*/genetics
Epidermolysis Bullosa Simplex*/metabolism
Epidermolysis Bullosa, Junctional*/genetics
Epidermolysis Bullosa, Junctional*/diagnosis
Epidermolysis Bullosa, Junctional*/metabolism
Animals ; Mice ; Dystonin/metabolism ; Skin/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Consensus-based guidelines for the provision of palliative and end-of-life care for people living with epidermolysis bullosa.
Autorzy:
Popenhagen MP; Department of Anesthesiology B090, Children's Hospital Colorado, University of Colorado School of Medicine, Anschutz Medical Campus, 13123 E 16Th Ave, Aurora, CO, 80045, USA. .; Section of Pediatric Anesthesiology, Children's Hospital Colorado, Aurora, CO, USA. .
Genovese P; Phoenix Children's Hospital, Phoenix, AZ, USA.
Blishen M; DEBRA New Zealand, Newtown, Wellington, New Zealand.
Rajapakse D; Great Ormond Street Hospital Trust, London, UK.
Diem A; EB House Austria, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, Salzburg, Austria.
King A; Human Sense, LLC, Phoenix, AZ, USA.
Chan J; Lucile Packard Children's Hospital, Stanford, Menlo Park, CA, USA.
Pellicer Arasa E; Sant Joan de Déu Barcelona Hospital, Barcelona, Spain.
Baird S; DEBRA Australia, Pittsworth, QLD, Australia.; Melbourne, Australia.
Ferreira da Rocha AC; DEBRA Brazil, Blumenau, Santa Catarina, Brazil.; Santa Catarina, Brazil.
Stitt G; Division of Clinical Pharmacology, University of Utah, Salt Lake City, UT, USA.
Badger K; Phoenix Children's Hospital, Phoenix, AZ, USA.
Zmazek V; DEBRA Croatia, Zagreb, Croatia.; Zagreb, Croatia.
Ambreen F; DEBRA Pakistan, Lahore, Punjab, Pakistan.; London, UK.
Mackenzie C; Guys and St Thomas' Foundation NHS Foundation Trust, EB Adult Service, East Hampshire, England, UK.
Price H; Phoenix Children's Hospital, Phoenix, AZ, USA.
Roberts T; DEBRA South Africa, Western Cape, Cape Town, South Africa.; Cape Town, South Africa.
Moore Z; Royal College of Surgeons in Ireland, University of Medicine and Health Sciences, Dublin, Ireland.
Patton D; Royal College of Surgeons in Ireland, University of Medicine and Health Sciences, Dublin, Ireland.
Murphy P; Royal College of Surgeons in Ireland, University of Medicine and Health Sciences, Dublin, Ireland.
Mayre-Chilton K; DEBRA International, Vienna, Austria.; Mildmay Mission Hospital, London, UK.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Sep 04; Vol. 18 (1), pp. 268. Date of Electronic Publication: 2023 Sep 04.
Typ publikacji:
Consensus Development Conference; Journal Article; Practice Guideline; Research Support, Non-U.S. Gov't
MeSH Terms:
Epidermolysis Bullosa*/therapy
Palliative Care*
Terminal Care*
Humans
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Consensus guidelines for diagnosis and management of anemia in epidermolysis bullosa.
Autorzy:
Liy-Wong C; Division of Dermatology and Rheumatology, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada. .
Tarango C; Division of Hematology, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Pope E; Division of Dermatology, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Coates T; Keck School of Medicine, Division of Hematology/Oncology, Department of Pediatrics, Children's Hospital Los Angeles, University of Southern California, Los Angeles, CA, USA.
Bruckner AL; Epidermolysis Bullosa Clinic, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO, USA.
Feinstein JA; Epidermolysis Bullosa Clinic, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO, USA.
Schwieger-Briel A; Pediatric Skin Center, Department of Dermatology, University Children's Hospital Zurich, Zurich, Switzerland.
Hubbard LD; Department of Nutrition and Dietetics, Rare Diseases Centre at St Thomas' Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.
Jane C; Lead EB CNS, Rare Diseases Centre, St John's Institute of Dermatology, St Thomas' Hospital, Guy's and St Thomas' NHS Foundation Trust and DEBRA UK, London, UK.
Torres-Pradilla M; Fundación Universitaria de Ciencias de la Salud and Hospital de San José, Bogotá, Colombia.
Zmazek M; DEBRA, Zagreb, Croatia.
Lara-Corrales I; Division of Dermatology, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Feb 23; Vol. 18 (1), pp. 38. Date of Electronic Publication: 2023 Feb 23.
Typ publikacji:
Journal Article; Review; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Epidermolysis Bullosa*/complications
Epidermolysis Bullosa*/diagnosis
Epidermolysis Bullosa*/therapy
Anemia*/diagnosis
Anemia*/drug therapy
Anemia*/etiology
Epidermolysis Bullosa Dystrophica*
Child ; Adult ; Humans ; Consensus ; Health Personnel ; Iron
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A Novel Fluorescence-Based Screen of Gene Editing Molecules for Junctional Epidermolysis Bullosa.
Autorzy:
Zwicklhuber J; EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria.
Kocher T; EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria.
Liemberger B; EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria.
Hainzl S; EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria.
Bischof J; EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria.
Strunk D; Cell Therapy Institute, Spinal Cord Injury and Tissue Regeneration Center Salzburg (SCI-TReCS), Paracelsus Medical University, 5020 Salzburg, Austria.
Raninger AM; Cell Therapy Institute, Spinal Cord Injury and Tissue Regeneration Center Salzburg (SCI-TReCS), Paracelsus Medical University, 5020 Salzburg, Austria.
Gratz I; EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria.; Department of Biosciences and Medical Biology, University of Salzburg, 5020 Salzburg, Austria.
Wally V; EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria.
Guttmann-Gruber C; EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria.
Hofbauer JP; EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria.
Bauer JW; Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria.
Koller U; EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Mar 08; Vol. 24 (6). Date of Electronic Publication: 2023 Mar 08.
Typ publikacji:
Journal Article
MeSH Terms:
Epidermolysis Bullosa, Junctional*/genetics
Epidermolysis Bullosa*/genetics
Animals ; Humans ; Gene Editing ; Skin ; Mutation ; Keratinocytes
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
COL7A1 Editing via RNA Trans -Splicing in RDEB-Derived Skin Equivalents.
Autorzy:
Liemberger B; EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria.
Bischof J; EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria.
Ablinger M; EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria.
Hainzl S; EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria.
Murauer EM; EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria.
Lackner N; EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria.
Ebner P; EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria.
Kocher T; EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria.
Nyström A; Department of Dermatology, Medical Faculty, Medical Center-University of Freiburg, 79110 Freiburg, Germany.
Wally V; EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria.
Mayr E; EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria.
Guttmann-Gruber C; EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria.
Hofbauer JP; EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria.
Bauer JW; Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria.
Koller U; EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Feb 22; Vol. 24 (5). Date of Electronic Publication: 2023 Feb 22.
Typ publikacji:
Journal Article
MeSH Terms:
Epidermolysis Bullosa Dystrophica*/genetics
Epidermolysis Bullosa*/genetics
Humans ; Trans-Splicing ; Skin/metabolism ; Keratinocytes/metabolism ; Collagen Type VII/genetics ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Onset of epidermolysis bullosa acquisita under therapy with ustekinumab for the treatment of Crohn disease.
Autorzy:
Gambichler T; Skin Cancer Center, Department of Dermatology, Ruhr-University Bochum, Bochum, Germany; and.
Schmidt E; Department of Dermatology and Lübeck Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany.
Scheel CH; Skin Cancer Center, Department of Dermatology, Ruhr-University Bochum, Bochum, Germany; and.
Chatzipantazi M; Skin Cancer Center, Department of Dermatology, Ruhr-University Bochum, Bochum, Germany; and.
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Źródło:
Clinical and experimental dermatology [Clin Exp Dermatol] 2023 Mar 01; Vol. 48 (3), pp. 245-246.
Typ publikacji:
Letter
MeSH Terms:
Epidermolysis Bullosa Acquisita*
Crohn Disease*
Epidermolysis Bullosa*
Humans ; Ustekinumab
Opinia redakcyjna
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Sucralfate-based cream as a novel and cost-effective topical agent in poorly healing ulcers in junctional epidermolysis bullosa.
Autorzy:
Agrawal A; Department of Dermatology, Venereology and Leprology, All India Institute of Medical Sciences (AIIMS), Jodhpur.
Bhardwaj A; Department of Dermatology, Venereology and Leprology, All India Institute of Medical Sciences (AIIMS), Jodhpur.
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Źródło:
Clinical and experimental dermatology [Clin Exp Dermatol] 2023 Feb 02; Vol. 48 (2), pp. 138-140.
Typ publikacji:
Journal Article
MeSH Terms:
Epidermolysis Bullosa, Junctional*
Epidermolysis Bullosa*
Humans ; Sucralfate/therapeutic use ; Ulcer ; Cost-Benefit Analysis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Assessment of nutrient intakes of children and adolescents with recessive dystrophic epidermolysis bllosa, severe subtype.
Autorzy:
Zidório APC; Clinical Nutrition Unit. Hospital Universitário de Brasília. Faculdade de Ciências de Saúde. Universidade de Brasília.
Carvalho KMB; Graduate Program in Human Nutrition. Faculdade de Ciências de Saúde. Universidade de Brasília.
Dutra ES; Graduate Program in Human Nutrition. Faculdade de Ciências de Saúde. Universidade de Brasília.
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Transliterated Title:
Evaluación de la ingesta de nutrientes de niños y adolescentes con epidermólisis bullosa distrófica recesiva, subtipo severo.
Źródło:
Nutricion hospitalaria [Nutr Hosp] 2023 Apr 20; Vol. 40 (2), pp. 286-294.
Typ publikacji:
Journal Article
MeSH Terms:
Epidermolysis Bullosa*
Skin Diseases*
Child ; Humans ; Adolescent ; Blister ; Cross-Sectional Studies ; Eating ; Micronutrients ; Proteins ; Zinc ; Iron
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients.
Autorzy:
Tu WT; Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, 138 Sheng-Li Road, Tainan City, Taiwan.
Hou PC; Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, 138 Sheng-Li Road, Tainan City, Taiwan.
Chen PC; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
Chen WR; Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, 138 Sheng-Li Road, Tainan City, Taiwan.
Huang HY; Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, 138 Sheng-Li Road, Tainan City, Taiwan.
Wang JY; School of Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
Huang YT; School of Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
Wu YH; Department of Biomedical Engineering, National Cheng Kung University, Tainan, Taiwan.
Su CL; International Center for Wound Repair and Regeneration (iWRR), National Cheng Kung University, Tainan, Taiwan.
Tang YA; Institute of Molecular Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan.; Center for Genomic Medicine, Innovation Headquarters, National Cheng Kung University, Tainan, Taiwan.
Iwata H; Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
Natsuga K; Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
Chao SC; Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, 138 Sheng-Li Road, Tainan City, Taiwan.
Sun HS; Institute of Molecular Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan.; Center for Genomic Medicine, Innovation Headquarters, National Cheng Kung University, Tainan, Taiwan.
Tang MJ; International Center for Wound Repair and Regeneration (iWRR), National Cheng Kung University, Tainan, Taiwan.
Lee JY; Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, 138 Sheng-Li Road, Tainan City, Taiwan.
McGrath JA; St. John's Institute of Dermatology, King's College London (Guy's Campus), London, UK.
Hsu CK; Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, 138 Sheng-Li Road, Tainan City, Taiwan. .; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan. .; International Center for Wound Repair and Regeneration (iWRR), National Cheng Kung University, Tainan, Taiwan. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Dec 28; Vol. 17 (1), pp. 451. Date of Electronic Publication: 2022 Dec 28.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Epidermolysis Bullosa*/diagnosis
Epidermolysis Bullosa Dystrophica*/pathology
Humans ; Exome Sequencing ; Taiwan ; Mutation/genetics ; Skin/pathology ; Collagen Type VII/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Potential di-genic contribution to guttate leukoderma as the predominant feature of epidermolysis bullosa simplex.
Autorzy:
Koren T; Department of Dermatology, 'Emek' Medical Center, Afula, Israel.
Zagairy F; Department of Dermatology, 'Emek' Medical Center, Afula, Israel.
Tatour Y; The Genetic Institute, 'Emek' Medical Center, Afula, Israel.
Belhanes-Peled H; The Institute of Tissue Diagnostics and Cancer Research, Emek Medical Center, Afula, Israel.
Khayat M; The Genetic Institute, 'Emek' Medical Center, Afula, Israel.
Krausz J; The Institute of Tissue Diagnostics and Cancer Research, Emek Medical Center, Afula, Israel.
Danial-Farran N; The Genetic Institute, 'Emek' Medical Center, Afula, Israel.
Ziv M; Department of Dermatology, 'Emek' Medical Center, Afula, Israel.
Cohen-Barak E; Department of Dermatology, 'Emek' Medical Center, Afula, Israel.; Bruce and Ruth Rappaport Faculty of Medicine, Technion, Haifa, Israel.
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Źródło:
Experimental dermatology [Exp Dermatol] 2022 Dec; Vol. 31 (12), pp. 1927-1931. Date of Electronic Publication: 2022 Aug 23.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Epidermolysis Bullosa Simplex*/genetics
Epidermolysis Bullosa Simplex*/pathology
Hypopigmentation*/genetics
Epidermolysis Bullosa*/genetics
Female ; Child, Preschool ; Humans ; Cicatrix/pathology ; Blister/pathology ; Keratinocytes/metabolism ; Adaptor Proteins, Signal Transducing/metabolism
Czasopismo naukowe
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Tytuł:
Targeted NGS in Diagnostics of Genodermatosis Characterized by the Epidermolysis Bullosa Symptom Complex in 268 Russian Children.
Autorzy:
Savostyanov K; FSAI «National Medical Research Center for Children's Health» of the Russian Federation Ministry of Health, 119991 Moscow, Russia.
Murashkin N; FSAI «National Medical Research Center for Children's Health» of the Russian Federation Ministry of Health, 119991 Moscow, Russia.
Pushkov A; FSAI «National Medical Research Center for Children's Health» of the Russian Federation Ministry of Health, 119991 Moscow, Russia.
Zhanin I; FSAI «National Medical Research Center for Children's Health» of the Russian Federation Ministry of Health, 119991 Moscow, Russia.
Suleymanov E; Ministry of Public Health, Republic of Chechnya, 364037 Grozny, Russia.
Akhkiamova M; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Shchagina O; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Balanovska E; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Epishev R; FSAI «National Medical Research Center for Children's Health» of the Russian Federation Ministry of Health, 119991 Moscow, Russia.
Polyakov A; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Fisenko A; FSAI «National Medical Research Center for Children's Health» of the Russian Federation Ministry of Health, 119991 Moscow, Russia.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Nov 18; Vol. 23 (22). Date of Electronic Publication: 2022 Nov 18.
Typ publikacji:
Journal Article
MeSH Terms:
Epidermolysis Bullosa*/diagnosis
Epidermolysis Bullosa*/genetics
Humans ; Alleles ; Phenotype ; Mutation ; High-Throughput Nucleotide Sequencing ; Collagen Type VII/genetics
Czasopismo naukowe
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Tytuł:
Hand surgery and hand therapy clinical practice guideline for epidermolysis bullosa.
Autorzy:
Box R; Hand Therapy Department, Guy's and St Thomas' NHS Foundation Trust, Westminster Bridge Road, London, SE1 7EH, UK. .
Bernardis C; Hand Surgery Department, Guy's and St Thomas' NHS Foundation Trust, Westminster Bridge Road, London, SE1 7EH, UK.
Pleshkov A; Federal State Budgetary Institution All-Russian Centre for Emergency and Radiation Medicine, Saint Petersburg, Russia.
Jessop N; Clinical Specialist Congenital Hand Anomalies and Dermatology, Great Ormond Street Hospital for Children NHS Foundation Trust, Occupational Therapy, Level 5 Frontage Building, Great Ormond Street, London, WC1N 3JH, UK.
Miller C; Plastic Surgery/Dermatology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, WC1N 3JH, UK.
Skye J; Fairview Health Services/M Health, University of Minnesota, 909 Fulton Street SE, Minneapolis, MN, 55455, USA.
O'Brien V; Fairview Health Services/M Health, University of Minnesota, 909 Fulton Street SE, Minneapolis, MN, 55455, USA.
Veerkamp M; Cincinnati Children's Hospital and Medical Centre, 3333 Burnet Ave, OH 45229H, Cincinnati, USA.
da Rocha ACF; DEBRA Brazil, R. Carl Dettmer, 65- Itoupava Central, Blumenau- SC, 89068-230, Brazil.
Cornwall R; Orthopaedic Surgery and Developmental Biology, Cincinnati Children's Hospital, 3333 Burnet Ave, OH 45229, Cincinnati, USA.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Nov 07; Vol. 17 (1), pp. 406. Date of Electronic Publication: 2022 Nov 07.
Typ publikacji:
Journal Article; Review; Research Support, Non-U.S. Gov't
MeSH Terms:
Epidermolysis Bullosa*/surgery
Epidermolysis Bullosa*/complications
Contracture*/surgery
Epidermolysis Bullosa Dystrophica*
Child ; Adult ; Humans ; Hand/surgery ; Consensus
Czasopismo naukowe
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Tytuł:
Bullous impetigo mimicking epidermolysis bullosa.
Autorzy:
Dash S; Department of Dermatology, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India.
Palit A; Department of Dermatology, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India.
Behera B; Department of Dermatology, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India.
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Źródło:
Indian journal of dermatology, venereology and leprology [Indian J Dermatol Venereol Leprol] 2022 Nov-Dec; Vol. 88 (6), pp. 851-852.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Impetigo*/diagnosis
Epidermolysis Bullosa Acquisita*
Epidermolysis Bullosa*/diagnosis
Humans
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
The C4EB study-Transvamix (10% THC / 5% CBD) to treat chronic pain in epidermolysis bullosa: A protocol for an explorative randomized, placebo controlled, and double blind intervention crossover study.
Autorzy:
Schräder NHB; Department of Dermatology, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.
Duipmans JC; Department of Dermatology, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.
Renken RJ; Cognitive Neuroscience Center, Department of Biomedical Sciences of Cells and Systems, University Medical Center Groningen, Groningen, The Netherlands.
Sörös P; Department of Neurology, School of Medicine and Health Sciences, Carl von Ossietzky Universität Oldenburg, Oldenburg, Germany.; Research Center Neurosensory Science, Carl von Ossietzky University of Oldenburg, Oldenburg, Germany.
Vermeulen KM; Department of Epidemiology, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.
Bolling MC; Department of Dermatology, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.
Wolff AP; Anaesthesiology Pain Centre, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.
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Źródło:
PloS one [PLoS One] 2022 Dec 12; Vol. 17 (12), pp. e0277512. Date of Electronic Publication: 2022 Dec 12 (Print Publication: 2022).
Typ publikacji:
Clinical Trial Protocol; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Chronic Pain*/etiology
Chronic Pain*/chemically induced
Cannabidiol*/therapeutic use
Epidermolysis Bullosa*/complications
Epidermolysis Bullosa*/drug therapy
Adult ; Humans ; Cross-Over Studies ; Dronabinol ; Quality of Life ; Double-Blind Method ; Randomized Controlled Trials as Topic
Czasopismo naukowe
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Tytuł:
Epidermolysis bullosa: new insights for the future.
Autorzy:
Martora F; Dermatology Unit, Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy.
Fabbrocini G; Dermatology Unit, Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy.
Battista T; Dermatology Unit, Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy.
Patruno C; Department of Health Sciences, University Magna Graecia of Catanzaro, Catanzaro, Italy.
Napolitano M; Department of Medicine and Health Sciences Vincenzo Tiberio, University of Molise, Campobasso, Italy.
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Źródło:
Clinical and experimental dermatology [Clin Exp Dermatol] 2022 Dec; Vol. 47 (12), pp. 2287-2288. Date of Electronic Publication: 2022 Sep 04.
Typ publikacji:
Letter
MeSH Terms:
Epidermolysis Bullosa*/diagnosis
Epidermolysis Bullosa*/genetics
Humans
Opinia redakcyjna
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Tytuł:
Clinical characteristics, healthcare use, and annual costs among patients with dystrophic epidermolysis bullosa.
Autorzy:
Feinstein JA; Department of Pediatrics, University of Colorado School of Medicine, 13123 E 16th Ave, Aurora, CO, 80045, USA.
Bruckner AL; Department of Dermatology, University of Colorado School of Medicine, 13123 E 16th Ave, B570, Aurora, CO, 80045, USA.
Chastek B; Optum, 11000 Optum Circle, Eden Prairie, MN, 55344, USA.
Anderson A; Optum, 11000 Optum Circle, Eden Prairie, MN, 55344, USA.
Roman J; Krystal Biotech, 2100 Wharton Street, Suite 701, Pittsburgh, PA, 15203, USA. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Sep 29; Vol. 17 (1), pp. 367. Date of Electronic Publication: 2022 Sep 29.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms:
Carcinoma, Squamous Cell*
Epidermolysis Bullosa*/genetics
Epidermolysis Bullosa Dystrophica*/pathology
Skin Neoplasms*/complications
Adult ; Anti-Bacterial Agents ; Delivery of Health Care ; Humans ; Retrospective Studies
Czasopismo naukowe
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Wyświetlanie 1-20 z 7187

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