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Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia.
Schneider, Holm; Faschingbauer, Florian; Schuepbach-Mallepell, Sonia; Körber, Iris; Wohlfart, Sigrun; Dick, Angela; Wahlbuhl, Mandy; Kowalczyk-Quintas, Christine; Vigolo, Michele; Kirby, Neil; Tannert, Corinna; Rompel, Oliver; Rascher, Wolfgang; Beckmann, Matthias W; Schneider, Pascal.
Afiliação
  • Schneider H; From the Departments of Pediatrics (H.S., I.K., S.W., A.D., M.W., W.R.), Obstetrics and Gynecology (F.F., M.W.B.), and Radiology (O.R.), University of Erlangen-Nürnberg, Erlangen, and Radiology Nienburg, Nienburg/Weser (C.T.) - both in Germany; the Department of Biochemistry, University of Lausanne,
  • Faschingbauer F; From the Departments of Pediatrics (H.S., I.K., S.W., A.D., M.W., W.R.), Obstetrics and Gynecology (F.F., M.W.B.), and Radiology (O.R.), University of Erlangen-Nürnberg, Erlangen, and Radiology Nienburg, Nienburg/Weser (C.T.) - both in Germany; the Department of Biochemistry, University of Lausanne,
  • Schuepbach-Mallepell S; From the Departments of Pediatrics (H.S., I.K., S.W., A.D., M.W., W.R.), Obstetrics and Gynecology (F.F., M.W.B.), and Radiology (O.R.), University of Erlangen-Nürnberg, Erlangen, and Radiology Nienburg, Nienburg/Weser (C.T.) - both in Germany; the Department of Biochemistry, University of Lausanne,
  • Körber I; From the Departments of Pediatrics (H.S., I.K., S.W., A.D., M.W., W.R.), Obstetrics and Gynecology (F.F., M.W.B.), and Radiology (O.R.), University of Erlangen-Nürnberg, Erlangen, and Radiology Nienburg, Nienburg/Weser (C.T.) - both in Germany; the Department of Biochemistry, University of Lausanne,
  • Wohlfart S; From the Departments of Pediatrics (H.S., I.K., S.W., A.D., M.W., W.R.), Obstetrics and Gynecology (F.F., M.W.B.), and Radiology (O.R.), University of Erlangen-Nürnberg, Erlangen, and Radiology Nienburg, Nienburg/Weser (C.T.) - both in Germany; the Department of Biochemistry, University of Lausanne,
  • Dick A; From the Departments of Pediatrics (H.S., I.K., S.W., A.D., M.W., W.R.), Obstetrics and Gynecology (F.F., M.W.B.), and Radiology (O.R.), University of Erlangen-Nürnberg, Erlangen, and Radiology Nienburg, Nienburg/Weser (C.T.) - both in Germany; the Department of Biochemistry, University of Lausanne,
  • Wahlbuhl M; From the Departments of Pediatrics (H.S., I.K., S.W., A.D., M.W., W.R.), Obstetrics and Gynecology (F.F., M.W.B.), and Radiology (O.R.), University of Erlangen-Nürnberg, Erlangen, and Radiology Nienburg, Nienburg/Weser (C.T.) - both in Germany; the Department of Biochemistry, University of Lausanne,
  • Kowalczyk-Quintas C; From the Departments of Pediatrics (H.S., I.K., S.W., A.D., M.W., W.R.), Obstetrics and Gynecology (F.F., M.W.B.), and Radiology (O.R.), University of Erlangen-Nürnberg, Erlangen, and Radiology Nienburg, Nienburg/Weser (C.T.) - both in Germany; the Department of Biochemistry, University of Lausanne,
  • Vigolo M; From the Departments of Pediatrics (H.S., I.K., S.W., A.D., M.W., W.R.), Obstetrics and Gynecology (F.F., M.W.B.), and Radiology (O.R.), University of Erlangen-Nürnberg, Erlangen, and Radiology Nienburg, Nienburg/Weser (C.T.) - both in Germany; the Department of Biochemistry, University of Lausanne,
  • Kirby N; From the Departments of Pediatrics (H.S., I.K., S.W., A.D., M.W., W.R.), Obstetrics and Gynecology (F.F., M.W.B.), and Radiology (O.R.), University of Erlangen-Nürnberg, Erlangen, and Radiology Nienburg, Nienburg/Weser (C.T.) - both in Germany; the Department of Biochemistry, University of Lausanne,
  • Tannert C; From the Departments of Pediatrics (H.S., I.K., S.W., A.D., M.W., W.R.), Obstetrics and Gynecology (F.F., M.W.B.), and Radiology (O.R.), University of Erlangen-Nürnberg, Erlangen, and Radiology Nienburg, Nienburg/Weser (C.T.) - both in Germany; the Department of Biochemistry, University of Lausanne,
  • Rompel O; From the Departments of Pediatrics (H.S., I.K., S.W., A.D., M.W., W.R.), Obstetrics and Gynecology (F.F., M.W.B.), and Radiology (O.R.), University of Erlangen-Nürnberg, Erlangen, and Radiology Nienburg, Nienburg/Weser (C.T.) - both in Germany; the Department of Biochemistry, University of Lausanne,
  • Rascher W; From the Departments of Pediatrics (H.S., I.K., S.W., A.D., M.W., W.R.), Obstetrics and Gynecology (F.F., M.W.B.), and Radiology (O.R.), University of Erlangen-Nürnberg, Erlangen, and Radiology Nienburg, Nienburg/Weser (C.T.) - both in Germany; the Department of Biochemistry, University of Lausanne,
  • Beckmann MW; From the Departments of Pediatrics (H.S., I.K., S.W., A.D., M.W., W.R.), Obstetrics and Gynecology (F.F., M.W.B.), and Radiology (O.R.), University of Erlangen-Nürnberg, Erlangen, and Radiology Nienburg, Nienburg/Weser (C.T.) - both in Germany; the Department of Biochemistry, University of Lausanne,
  • Schneider P; From the Departments of Pediatrics (H.S., I.K., S.W., A.D., M.W., W.R.), Obstetrics and Gynecology (F.F., M.W.B.), and Radiology (O.R.), University of Erlangen-Nürnberg, Erlangen, and Radiology Nienburg, Nienburg/Weser (C.T.) - both in Germany; the Department of Biochemistry, University of Lausanne,
N Engl J Med ; 378(17): 1604-1610, 2018 04 26.
Article em En | MEDLINE | ID: mdl-29694819
ABSTRACT
Genetic deficiency of ectodysplasin A (EDA) causes X-linked hypohidrotic ectodermal dysplasia (XLHED), in which the development of sweat glands is irreversibly impaired, an condition that can lead to life-threatening hyperthermia. We observed normal development of mouse fetuses with Eda mutations after they had been exposed in utero to a recombinant protein that includes the receptor-binding domain of EDA. We administered this protein intraamniotically to two affected human twins at gestational weeks 26 and 31 and to a single affected human fetus at gestational week 26; the infants, born in week 33 (twins) and week 39 (singleton), were able to sweat normally, and XLHED-related illness had not developed by 14 to 22 months of age. (Funded by Edimer Pharmaceuticals and others.).
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Diagnóstico Pré-Natal / Proteínas Recombinantes de Fusão / Fragmentos Fc das Imunoglobulinas / Receptores Fc / Terapia Genética / Antígenos CD / Terapias Fetais / Displasia Ectodérmica Anidrótica Tipo 1 / Ectodisplasinas Tipo de estudo: Diagnostic_studies Limite: Adult / Female / Humans / Male / Pregnancy Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Diagnóstico Pré-Natal / Proteínas Recombinantes de Fusão / Fragmentos Fc das Imunoglobulinas / Receptores Fc / Terapia Genética / Antígenos CD / Terapias Fetais / Displasia Ectodérmica Anidrótica Tipo 1 / Ectodisplasinas Tipo de estudo: Diagnostic_studies Limite: Adult / Female / Humans / Male / Pregnancy Idioma: En Ano de publicação: 2018 Tipo de documento: Article