Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Katherine Joyce Ramos Diaz"'
Publikováno v:
SAGE Open Medical Case Reports, Vol 12 (2024)
Opsoclonus-myoclonus syndrome is a rare neurological condition characterized by opsoclonus, myoclonus, ataxia, irritability, and sleep disturbances. In pediatric patients, symptoms usually start between 16 and 18 months of age; opsoclonus-myoclonus s
Externí odkaz:
https://doaj.org/article/356f88812063474981974d2575fbf018
Autor:
Victoria Polar Córdoba, Nélida Aviles Alfaro, Milana Trubnykova, Katherine Joyce Ramos Diaz, Hugo Hernán Abarca Barriga
Publikováno v:
Revista chilena de pediatría v.87 n.6 2016
SciELO Chile
CONICYT Chile
instacron:CONICYT
SciELO Chile
CONICYT Chile
instacron:CONICYT
ResumenIntroducciónEl síndrome H es una enfermedad genética extremadamente rara de compromiso multisistémico, el cual clínicamente puede ser reconocido de forma precoz, ofreciendo de manera oportuna un seguimiento, tratamiento específico y ases
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccc526135f7f4b658125f562e6bf4ac1
https://doi.org/10.1016/j.rchipe.2016.03.006
https://doi.org/10.1016/j.rchipe.2016.03.006
Autor:
Hugo Hernán, Abarca Barriga, Milana, Trubnykova, Victoria, Polar Córdoba, Katherine Joyce, Ramos Diaz, Nélida, Aviles Alfaro
Publikováno v:
Revista chilena de pediatria. 87(6)
H Syndrome is an extremely rare genetic disease, with a multisystemic character and which can be identified in early childhood, offering the opportunity of specific treatment and genetic counselling.To present a clinical case with "typical" character
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0afe5fa1a71f242b943861ab84aa382c
https://pubmed.ncbi.nlm.nih.gov/27143505
https://pubmed.ncbi.nlm.nih.gov/27143505