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Identification of the first Tangier disease patient in Lebanon carrying a new pathogenic variant in ABCA1.
El Khoury, Petra; Couvert, Philippe; Elbitar, Sandy; Ghaleb, Youmna; Abou-Khalil, Yara; Azar, Yara; Ayoub, Carine; Superville, Alexandre; Guérin, Maryse; Rabès, Jean-Pierre; Varret, Mathilde; Boileau, Catherine; Jambart, Selim; Giral, Philippe; Carrié, Alain; Le Goff, Wilfried; Abifadel, Marianne.
Afiliação
  • El Khoury P; Laboratory of Biochemistry and Molecular Therapeutics, Faculty of Pharmacy, Pôle Technologie- Santé, Saint Joseph University, Beirut, Lebanon; INSERM LVTS U1148, Hôpital Bichat-Claude Bernard, Paris, France.
  • Couvert P; Hôpitaux Universitaires Pitié-Salpêtrière-Charles Foix, Pôle de Biologie Médicale et Pathologie, Centre de Génétique Moléculaire et Chromosomique, Paris, France; Sorbonne Université, Inserm, Institute of Cardiometabolism and Nutrition (ICAN), UMR_S1166, Paris, France.
  • Elbitar S; Laboratory of Biochemistry and Molecular Therapeutics, Faculty of Pharmacy, Pôle Technologie- Santé, Saint Joseph University, Beirut, Lebanon; INSERM LVTS U1148, Hôpital Bichat-Claude Bernard, Paris, France.
  • Ghaleb Y; Laboratory of Biochemistry and Molecular Therapeutics, Faculty of Pharmacy, Pôle Technologie- Santé, Saint Joseph University, Beirut, Lebanon; INSERM LVTS U1148, Hôpital Bichat-Claude Bernard, Paris, France.
  • Abou-Khalil Y; Laboratory of Biochemistry and Molecular Therapeutics, Faculty of Pharmacy, Pôle Technologie- Santé, Saint Joseph University, Beirut, Lebanon; INSERM LVTS U1148, Hôpital Bichat-Claude Bernard, Paris, France.
  • Azar Y; Laboratory of Biochemistry and Molecular Therapeutics, Faculty of Pharmacy, Pôle Technologie- Santé, Saint Joseph University, Beirut, Lebanon.
  • Ayoub C; Laboratory of Biochemistry and Molecular Therapeutics, Faculty of Pharmacy, Pôle Technologie- Santé, Saint Joseph University, Beirut, Lebanon.
  • Superville A; Sorbonne Université, Inserm, Institute of Cardiometabolism and Nutrition (ICAN), UMR_S1166, Paris, France.
  • Guérin M; Sorbonne Université, Inserm, Institute of Cardiometabolism and Nutrition (ICAN), UMR_S1166, Paris, France.
  • Rabès JP; Assistance Publique-Hôpitaux de Paris, HUPIFO, hôpital Ambroise-Paré, Laboratoire de Biochimie et de Génétique Moléculaire, Boulogne-Billancourt et UVSQ, UFR des Sciences de la Santé Simone Veil, Montigny-le-Bretonneux, France.
  • Varret M; INSERM LVTS U1148, Hôpital Bichat-Claude Bernard, Paris, France.
  • Boileau C; INSERM LVTS U1148, Hôpital Bichat-Claude Bernard, Paris, France; Paris Diderot University, Paris, France; Service de Génétique, Hôpital Bichat-Claude Bernard, Paris, France.
  • Jambart S; Saint Joseph University of Beirut Faculty of Medicine, Hôtel Dieu Hospital, Beirut, Lebanon.
  • Giral P; Sorbonne Université, Inserm, Institute of Cardiometabolism and Nutrition (ICAN), UMR_S1166, Paris, France; Department of Endocrinology-Metabolism, AP-HP, Hôpital de la Pitié, Paris, France.
  • Carrié A; Hôpitaux Universitaires Pitié-Salpêtrière-Charles Foix, Pôle de Biologie Médicale et Pathologie, Centre de Génétique Moléculaire et Chromosomique, Paris, France.
  • Le Goff W; Sorbonne Université, Inserm, Institute of Cardiometabolism and Nutrition (ICAN), UMR_S1166, Paris, France.
  • Abifadel M; Laboratory of Biochemistry and Molecular Therapeutics, Faculty of Pharmacy, Pôle Technologie- Santé, Saint Joseph University, Beirut, Lebanon; INSERM LVTS U1148, Hôpital Bichat-Claude Bernard, Paris, France. Electronic address: marianne.abi-fadel@inserm.fr.
J Clin Lipidol ; 12(6): 1374-1382, 2018.
Article em En | MEDLINE | ID: mdl-30361172
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Tangier / Variação Genética / Transportador 1 de Cassete de Ligação de ATP Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged País/Região como assunto: Asia Idioma: En Revista: J Clin Lipidol Assunto da revista: BIOQUIMICA / METABOLISMO Ano de publicação: 2018 Tipo de documento: Article País de afiliação: França
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Tangier / Variação Genética / Transportador 1 de Cassete de Ligação de ATP Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged País/Região como assunto: Asia Idioma: En Revista: J Clin Lipidol Assunto da revista: BIOQUIMICA / METABOLISMO Ano de publicação: 2018 Tipo de documento: Article País de afiliação: França