Improvement of diagnostic yield in carbamoylphosphate synthetase 1 (CPS1) molecular genetic investigation by RNA sequencing

Carbamoylphosphate synthetase 1 (CPS1) deficiency is a rare inborn error of metabolism leading often to neonatal onset hyperammonemia with coma and high mortality. The biochemical features of the disease are nonspecific and cannot distinguish this condition from other defects of the urea cycle, name...

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Detalles Bibliográficos
Autores principales: Isler, Jasmine, Rüfenacht, Véronique, Gemperle, Corinne, Allegri, Gabriella, Häberle, Johannes
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7052687/
https://www.ncbi.nlm.nih.gov/pubmed/32154057
http://dx.doi.org/10.1002/jmd2.12091

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7052687/
https://www.ncbi.nlm.nih.gov/pubmed/32154057
http://dx.doi.org/10.1002/jmd2.12091

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