Noonan syndrome: genetic and clinical update and treatment options
Sign Up to like & getrecommendations! Published in 2020 at "Anales De Pediatria"
DOI: 10.1016/j.anpede.2020.04.009
Abstract: Noonan syndrome (NS) is a relatively common genetic condition characterised by short stature, congenital heart defects, and distinctive facial features. NS and other clinically overlapping conditions such as NS with multiple lentigines (formerly called LEOPARD… read more here.
Keywords: noonan syndrome; syndrome genetic; treatment; clinical update ... See more keywords
[Noonan syndrome: genetic and clinical update and treatment options].
Sign Up to like & getrecommendations! Published in 2020 at "Anales de pediatria"
DOI: 10.1016/j.anpedi.2020.04.008
Abstract: Noonan syndrome (NS) is a relatively common genetic condition characterised by short stature, congenital heart defects, and distinctive facial features. NS and other clinically overlapping conditions such as NS with multiple lentigines (formerly called LEOPARD… read more here.
Keywords: noonan syndrome; syndrome genetic; treatment; clinical update ... See more keywords
Metabolomic signature of the Dravet syndrome: A genetic mouse model study
Sign Up to like & getrecommendations! Published in 2021 at "Epilepsia"
DOI: 10.1111/epi.16976
Abstract: Alterations in metabolic homeostasis can contribute to neuronal hyperexcitability and seizure susceptibility. Although the pivotal role of impaired bioenergetics is obvious in metabolic epilepsies, there is a gap of knowledge regarding secondary changes in metabolite… read more here.
Keywords: metabolomic signature; genetic mouse; syndrome genetic; signature dravet ... See more keywords