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Patient with adrenal insufficiency due to a de novo mutation in the NR0B1 gene

Autor: Bravo Nieto Daniel, García Fernández Alba S., Díaz Troyano Noelia, Arnaiz Marina Giralt, Arias García Andrea, Fernández Álvarez Paula, Campos Martorell Ariadna, Ferrer Costa Roser, Clemente León María

Publikováno v: Advances in Laboratory Medicine, Vol 4, Iss 2, Pp 195-198 (2023)

Congenital X-linked adrenal hypoplasia is a rare disease with a known genetic basis characterized by adrenal insufficiency, hypogonadotropic hypogonadism, and a wide variety of clinical manifestations.

Externí odkaz: https://doaj.org/article/9e0413265b3141d0a1d7f37f6abfa7df

Harmonization of indirect reference intervals calculation by the Bhattacharya method.

Autor: Martinez-Sanchez L; Biochemistry Department, Clinical Laboratories, Vall d'Hebron University Hospital, Barcelona, Spain.; Departament de Bioquímica i Biologia Molecular, Universitat Autònoma de Barcelona, Bellaterra, Spain.; Department of Clinical Chemistry and Laboratory Medicine, Leiden University Medical Centre, Leiden, The Netherlands.; Clinical Biochemistry Research Team, Vall d'Hebron Institute of Research (VHIR), Barcelona, Spain., Gabriel-Medina P; Biochemistry Department, Clinical Laboratories, Vall d'Hebron University Hospital, Barcelona, Spain.; Departament de Bioquímica i Biologia Molecular, Universitat Autònoma de Barcelona, Bellaterra, Spain.; Clinical Biochemistry Research Team, Vall d'Hebron Institute of Research (VHIR), Barcelona, Spain., Villena-Ortiz Y; Biochemistry Department, Clinical Laboratories, Vall d'Hebron University Hospital, Barcelona, Spain.; Departament de Bioquímica i Biologia Molecular, Universitat Autònoma de Barcelona, Bellaterra, Spain.; Clinical Biochemistry Research Team, Vall d'Hebron Institute of Research (VHIR), Barcelona, Spain., García-Fernández AE; Biochemistry Department, Clinical Laboratories, Vall d'Hebron University Hospital, Barcelona, Spain.; Clinical Biochemistry Research Team, Vall d'Hebron Institute of Research (VHIR), Barcelona, Spain., Blanco-Grau A; Biochemistry Department, Clinical Laboratories, Vall d'Hebron University Hospital, Barcelona, Spain.; Departament de Bioquímica i Biologia Molecular, Universitat Autònoma de Barcelona, Bellaterra, Spain.; Clinical Biochemistry Research Team, Vall d'Hebron Institute of Research (VHIR), Barcelona, Spain., Cobbaert CM; Department of Clinical Chemistry and Laboratory Medicine, Leiden University Medical Centre, Leiden, The Netherlands., Bravo-Nieto D; Biochemistry Department, Clinical Laboratories, Vall d'Hebron University Hospital, Barcelona, Spain.; Clinical Biochemistry Research Team, Vall d'Hebron Institute of Research (VHIR), Barcelona, Spain., Garriga-Edo S; Biochemistry Department, Clinical Laboratories, Vall d'Hebron University Hospital, Barcelona, Spain.; Clinical Biochemistry Research Team, Vall d'Hebron Institute of Research (VHIR), Barcelona, Spain., Sanz-Gea C; Biochemistry Department, Clinical Laboratories, Vall d'Hebron University Hospital, Barcelona, Spain.; Clinical Biochemistry Research Team, Vall d'Hebron Institute of Research (VHIR), Barcelona, Spain., Gonzalez-Silva G; Biochemistry Department, Clinical Laboratories, Vall d'Hebron University Hospital, Barcelona, Spain.; Clinical Biochemistry Research Team, Vall d'Hebron Institute of Research (VHIR), Barcelona, Spain., López-Hellín J; Biochemistry Department, Clinical Laboratories, Vall d'Hebron University Hospital, Barcelona, Spain.; Clinical Biochemistry Research Team, Vall d'Hebron Institute of Research (VHIR), Barcelona, Spain., Ferrer-Costa R; Biochemistry Department, Clinical Laboratories, Vall d'Hebron University Hospital, Barcelona, Spain.; Clinical Biochemistry Research Team, Vall d'Hebron Institute of Research (VHIR), Barcelona, Spain., Casis E; Clinical Laboratories, Vall d'Hebron University Hospital, Barcelona, Spain., Rodríguez-Frías F; Biochemistry Department, Clinical Laboratories, Vall d'Hebron University Hospital, Barcelona, Spain.; Departament de Bioquímica i Biologia Molecular, Universitat Autònoma de Barcelona, Bellaterra, Spain.; Clinical Biochemistry Research Team, Vall d'Hebron Institute of Research (VHIR), Barcelona, Spain., den Elzen WPJ; Clinical Biochemistry Research Team, Vall d'Hebron Institute of Research (VHIR), Barcelona, Spain.; Department of Clinical Chemistry, Amsterdam UMC, University of Amsterdam, Amsterdam Public Health Research Institute, Amsterdam, The Netherlands.

Publikováno v: Clinical chemistry and laboratory medicine [Clin Chem Lab Med] 2022 Nov 17; Vol. 61 (2), pp. 266-274. Date of Electronic Publication: 2022 Nov 17 (Print Publication: 2023).