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

Autor: Sonia Pajares, J. Garcia-Villoria, Laura Gort, Ana Argudo-Ramírez, Olatz Ugarteburu, J.M. González De Aledo-Castillo, Antonia Ribes, J. A. Arranz, Frederic Tort, R.M. López, M.D. Casellas, Raúl Debesa Fernández, José Luis Marín, M. del Toro

Publikováno v: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 22, Iss, Pp-(2020)

Short-chain enoyl-CoA hydratase (ECHS1) is a mitochondrial beta-oxidation enzyme involved in the metabolism of acyl-CoA fatty acid esters, as well as in valine metabolism. ECHS1 deficiency has multiple manifestations, including Leigh syndrome early a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29b97a5762017c7115787a61efed9d8d
http://europepmc.org/articles/PMC6940607

A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment

Autor: Carla Carducci, Vincenzo Leuzzi, Chiara Mitola, Maria Teresa Giannini, Claudia Carducci, Andrea Celato, Sabrina Leo, Manuela Tolve

Malonyl-CoA decarboxylase deficiency (MLYCD) is a rare autosomal recessive inborn error of metabolism presenting a variable clinical phenotype. We report an affected Italian male receiving an early diagnosis (8 days after birth) and a timely dietary

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b541cc8e455d6d651f04f8392f95d66
http://hdl.handle.net/11573/808719

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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).