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Diagnostic challenge between a frequent polygenic hypocholesterolemia and an unusual Smith Lemli Opitz syndrome related to bi-allelic DHCR7 mutations.
Bonnot Ruget, Mathilde; Moulin, Philippe; Pagan, Cécile; Cheillan, David; Marmontel, Oriane; Raverot, Gerald; Benlian, Pascale; Di Filippo, Mathilde.
Affiliation
  • Bonnot Ruget M; 26900 Service de Biochimie et Biologie moléculaire, Laboratoire de Biologie Médicale Multi-sites, Hospices Civils de Lyon , Lyon Cedex, France.
  • Moulin P; CarMen Laboratory, INSERM, INRA, INSA Lyon, Université Claude Bernard Lyon 1, Pierre-Bénite, France.
  • Pagan C; 26900 Fédération d'endocrinologie, maladies métaboliques, diabète et nutrition, GHE, Hospices Civils de Lyon , Bron Cedex, France.
  • Cheillan D; 26900 Service de Biochimie et Biologie moléculaire, Laboratoire de Biologie Médicale Multi-sites, Hospices Civils de Lyon , Lyon Cedex, France.
  • Marmontel O; 26900 Service de Biochimie et Biologie moléculaire, Laboratoire de Biologie Médicale Multi-sites, Hospices Civils de Lyon , Lyon Cedex, France.
  • Raverot G; CarMen Laboratory, INSERM, INRA, INSA Lyon, Université Claude Bernard Lyon 1, Pierre-Bénite, France.
  • Benlian P; 26900 Service de Biochimie et Biologie moléculaire, Laboratoire de Biologie Médicale Multi-sites, Hospices Civils de Lyon , Lyon Cedex, France.
  • Di Filippo M; CarMen Laboratory, INSERM, INRA, INSA Lyon, Université Claude Bernard Lyon 1, Pierre-Bénite, France.
Clin Chem Lab Med ; 62(9): e200-e202, 2024 Aug 27.
Article in En | MEDLINE | ID: mdl-38581293
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Smith-Lemli-Opitz Syndrome / Oxidoreductases Acting on CH-CH Group Donors / Mutation Limits: Female / Humans / Male Language: En Journal: Clin Chem Lab Med Journal subject: QUIMICA CLINICA / TECNICAS E PROCEDIMENTOS DE LABORATORIO Year: 2024 Document type: Article Affiliation country: Country of publication:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Smith-Lemli-Opitz Syndrome / Oxidoreductases Acting on CH-CH Group Donors / Mutation Limits: Female / Humans / Male Language: En Journal: Clin Chem Lab Med Journal subject: QUIMICA CLINICA / TECNICAS E PROCEDIMENTOS DE LABORATORIO Year: 2024 Document type: Article Affiliation country: Country of publication: