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New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin.
Alhebbi, Hamoud; Peer-Zada, Abdul Ali; Al-Hussaini, Abdulrahman A; Algubaisi, Sara; Albassami, Awad; AlMasri, Nasser; Alrusayni, Yasir; Alruzug, Ibrahim M; Alharby, Essa; Samman, Manar A; Ayoub, Syed Zubair; Maddirevula, Sateesh; Peake, Roy W A; Alkuraya, Fowzan S; Wali, Sami; Almontashiri, Naif A M.
Afiliação
  • Alhebbi H; Department of Pediatrics, Division of Gastroenterology and Hepatology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
  • Peer-Zada AA; Molecular Pathology, Pathology and Clinical Laboratory Medicine Administration, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Al-Hussaini AA; Pediatric Gastroenterology Division, Children's Specialized Hospital at King Fahad Medical City, Riyadh, Saudi Arabia.
  • Algubaisi S; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
  • Albassami A; Department of Pediatrics, Division of Gastroenterology and Hepatology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
  • AlMasri N; Department of Pediatrics, Division of Gastroenterology and Hepatology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
  • Alrusayni Y; Department of Adult Gastroenterology and Hepatology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
  • Alruzug IM; Department of Pathology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
  • Alharby E; Department of Adult Gastroenterology and Hepatology, King Saud Medical City, Riyadh, Saudi Arabia.
  • Samman MA; Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunwarah, Saudi Arabia.
  • Ayoub SZ; Molecular Pathology, Pathology and Clinical Laboratory Medicine Administration, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Maddirevula S; Molecular Pathology, Pathology and Clinical Laboratory Medicine Administration, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Peake RWA; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Alkuraya FS; Department of Laboratory Medicine, Boston Children's Hospital, 300 Longwood Ave., Boston, MA, 02115, USA.
  • Wali S; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
  • Almontashiri NAM; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
J Hum Genet ; 66(2): 151-159, 2021 Feb.
Article em En | MEDLINE | ID: mdl-32759993
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Rifampina / Colangite / Colestase / Proteases Específicas de Ubiquitina / Gama-Glutamiltransferase / Homozigoto / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Infant / Male Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Arábia Saudita
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Rifampina / Colangite / Colestase / Proteases Específicas de Ubiquitina / Gama-Glutamiltransferase / Homozigoto / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Infant / Male Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Arábia Saudita