Case report: Two siblings with very late onset of holocarboxylase synthase deficiency and a mini-review

Autor: Margaux Gaschignard, Louis Domenach, Delphine Lamireau, Claire Guibet, Sandrine Roche, Emmanuel Richard, Isabelle Redonnet-Vernhet, Samir Mesli, Louis Lebreton

Publikováno v: Frontiers in Genetics, Vol 15 (2024)

Holocarboxylase synthase (HCS) deficiency is an extremely rare metabolic disorder typically presenting as severe neonatal metabolic acidosis, lethargy, hypotonia, vomiting, and seizures. This report describes two siblings in a family with late-onset

Externí odkaz: https://doaj.org/article/b37e84d2e6534cbfb3a10dfc51bd72a2

Preventing hyperhomocysteinemia using vitamin B6 supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review

Autor: Isabelle Redonnet-Vernhet, Patrick Mercié, Louis Lebreton, Jean-Marc Blouin, Didier Bronnimann, Samir Mesli, Claire Guibet, Emmanuel Ribeiro, Noémie Gensous, Pierre Duffau, Laurent Gouya, Emmanuel Richard

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101076- (2024)

Acute hepatic porphyrias are inherited metabolic disorders of heme biosynthesis characterized by the accumulation of toxic intermediate metabolites responsible for disabling acute neurovisceral attacks. Givosiran is a newly approved siRNA-based treat

Externí odkaz: https://doaj.org/article/3f6cf5bab6a04cf087bfd971ca90b02d

About a case of macro-FSH analytical interference

Autor: Claire Guibet, Alizée Violin, Jean-Benoît Corcuff, Agnès Georges, Julie Brossaud, Virginie Grouthier, Cindy Lauro

Publikováno v: Annales de Biologie Clinique. 79:353-355

An 18-year-old woman was referred by her GP to the endocrinology department of the University Hospital of Bordeaux on suspicion of premature ovarian failure because of a disorder of the menstrual cycle and pathological results of biological explorati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf963079f03b692aa942fff0060ae355
https://doi.org/10.1684/abc.2021.1630

Infantile primary carnitine deficiency: A severe cardiac presentation unresponsive to carnitine supplementation.

Autor: Louis L; Laboratoire de Biochimie Pôle de Biologie et Pathologie, CHU de Bordeaux Bordeaux France., Margaux G; Hôpital Pédiatrique, Pôle Pédiatrique, CHU de Bordeaux Bordeaux France., Claire G; Laboratoire de Biochimie Pôle de Biologie et Pathologie, CHU de Bordeaux Bordeaux France., Delphine L; Hôpital Pédiatrique, Pôle Pédiatrique, CHU de Bordeaux Bordeaux France., Sandrine R; Hôpital Pédiatrique, Pôle Pédiatrique, CHU de Bordeaux Bordeaux France., Emmanuel R; Laboratoire de Biochimie Pôle de Biologie et Pathologie, CHU de Bordeaux Bordeaux France.; INSERM BRIC U1312 Université de Bordeaux Bordeaux France., Cécile G; Laboratoire de Biochimie Pôle de Biologie et Pathologie, CHU de Bordeaux Bordeaux France.; INSERM BRIC U1312 Université de Bordeaux Bordeaux France., Samir M; Laboratoire de Biochimie Pôle de Biologie et Pathologie, CHU de Bordeaux Bordeaux France., Isabelle RV; Laboratoire de Biochimie Pôle de Biologie et Pathologie, CHU de Bordeaux Bordeaux France.; lNSERM MRGM U1211 Université de Bordeaux Bordeaux France.

Publikováno v: JIMD reports [JIMD Rep] 2022 Nov 09; Vol. 64 (1), pp. 35-41. Date of Electronic Publication: 2022 Nov 09 (Print Publication: 2023).