An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations.

Autor: Pajares S; Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain., López RM; Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain., Gort L; Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain., Argudo-Ramírez A; Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain., Marín JL; Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain., González de Aledo-Castillo JM; Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain., García-Villoria J; Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain., Arranz JA; Metabolic Laboratory and Neuropediatric Service, Hospital Universitario Vall de Hebron, Barcelona, Spain., Del Toro M; Metabolic Laboratory and Neuropediatric Service, Hospital Universitario Vall de Hebron, Barcelona, Spain., Tort F; Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain., Ugarteburu O; Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain., Casellas MD; Pediatric Service, Hospital Universitario Dr. Josep Trueta, Gerona, Spain., Fernández R; Public Health Agency, Health Department of Generalitat of Catalonia, Spain., Ribes A; Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain.

Publikováno v: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2020 Jan 02; Vol. 22, pp. 100553. Date of Electronic Publication: 2020 Jan 02 (Print Publication: 2020).

[Monitoring a home care cohort].

Autor: Gené Badia J; CAPSE Consorci d'Atenció Primària de Salut de l'Eixample, Barcelona, España. jgene@clinic.ub.es, Hidalgo García A, Contel Segura JC, Borràs Santos A, Ortiz Molina J, Martín Royo J, García Planas N, Heras Tebar A, Noguera Rodríguez R, Borrell Muñoz M, Farràs Salles C, Porta Borges M, Oliver Olius A, Rivas Zuazo S, Aranzana Martínez A, Cegri Lombardo F, Limón Ramírez E, Adell Aguiló N, Camprubí Casellas MD

Publikováno v: Atencion primaria [Aten Primaria] 2006 Jun 15; Vol. 38 (1), pp. 47-50.