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Clinical, genetic, and structural basis of apparent mineralocorticoid excess due to 11ß-hydroxysteroid dehydrogenase type 2 deficiency.
Yau, Mabel; Haider, Shozeb; Khattab, Ahmed; Ling, Chen; Mathew, Mehr; Zaidi, Samir; Bloch, Madison; Patel, Monica; Ewert, Sinead; Abdullah, Wafa; Toygar, Aysenur; Mudryi, Vitalii; Al Badi, Maryam; Alzubdi, Mouch; Wilson, Robert C; Al Azkawi, Hanan Said; Ozdemir, Hatice Nur; Abu-Amer, Wahid; Hertecant, Jozef; Razzaghy-Azar, Maryam; Funder, John W; Al Senani, Aisha; Sun, Li; Kim, Se-Min; Yuen, Tony; Zaidi, Mone; New, Maria I.
Afiliación
  • Yau M; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
  • Haider S; Department of Pharmaceutical and Biological Chemistry, University College London School of Pharmacy, London WC1N 1AX, United Kingdom.
  • Khattab A; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
  • Ling C; Department of Pharmaceutical and Biological Chemistry, University College London School of Pharmacy, London WC1N 1AX, United Kingdom.
  • Mathew M; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
  • Zaidi S; Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114.
  • Bloch M; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
  • Patel M; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
  • Ewert S; Department of Pharmaceutical and Biological Chemistry, University College London School of Pharmacy, London WC1N 1AX, United Kingdom.
  • Abdullah W; Department of Pediatrics, Royal Hospital, Muscat 111, Oman.
  • Toygar A; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
  • Mudryi V; Department of Pharmaceutical and Biological Chemistry, University College London School of Pharmacy, London WC1N 1AX, United Kingdom.
  • Al Badi M; Department of Pediatrics, Royal Hospital, Muscat 111, Oman.
  • Alzubdi M; Department of Pharmaceutical and Biological Chemistry, University College London School of Pharmacy, London WC1N 1AX, United Kingdom.
  • Wilson RC; Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, SC 29425.
  • Al Azkawi HS; Department of Pediatrics, Royal Hospital, Muscat 111, Oman.
  • Ozdemir HN; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
  • Abu-Amer W; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
  • Hertecant J; Department of Pediatrics, Tawam Hospital, Abu Dhabi 15258, United Arab Emirates.
  • Razzaghy-Azar M; Metabolic Disorders Research Center, Tehran University of Medical Sciences, Tehran 1417613151, Iran.
  • Funder JW; Department of Medicine, Monash University, Clayton, VIC 3800, Australia.
  • Al Senani A; Department of Pediatrics, Royal Hospital, Muscat 111, Oman.
  • Sun L; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
  • Kim SM; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
  • Yuen T; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
  • Zaidi M; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029; mone.zaidi@mssm.edu maria.new@mssm.edu.
  • New MI; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029; mone.zaidi@mssm.edu maria.new@mssm.edu.
Proc Natl Acad Sci U S A ; 114(52): E11248-E11256, 2017 12 26.
Article en En | MEDLINE | ID: mdl-29229831
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Mutación Missense / Síndrome de Exceso Aparente de Mineralocorticoides / 11-beta-Hidroxiesteroide Deshidrogenasa de Tipo 2 / Multimerización de Proteína / Genotipo Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Proc Natl Acad Sci U S A Año: 2017 Tipo del documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Mutación Missense / Síndrome de Exceso Aparente de Mineralocorticoides / 11-beta-Hidroxiesteroide Deshidrogenasa de Tipo 2 / Multimerización de Proteína / Genotipo Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Proc Natl Acad Sci U S A Año: 2017 Tipo del documento: Article