Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Filipa Dias Costa"'
Autor:
Filipa Dias Costa, Rita Moinho, Sandra Ferreira, Paula Garcia, Luísa Diogo, Isabel Gonçalves, Carla Pinto
Publikováno v:
Anales de Pediatría, Vol 88, Iss 2, Pp 69-74 (2018)
Resumen: Introducción: El fallo hepático agudo (FHA) secundario a enfermedades metabólicas hereditarias (EMH) es una enfermedad grave infrecuente de mal pronóstico. La intervención temprana puede salvar vidas. Objetivo: Describir la presentació
Externí odkaz:
https://doaj.org/article/d585fb8efb4e437e8e166e04d50907e8
Autor:
Filipa Dias Costa, Rita Moinho, Sandra Ferreira, Paula Garcia, Luísa Diogo, Isabel Gonçalves, Carla Pinto
Publikováno v:
Anales de Pediatría (English Edition), Vol 88, Iss 2, Pp 69-74 (2018)
Introduction: Pediatric acute liver failure (ALF) due to inherited metabolic diseases (IMD) is a rare life-threatening condition with a poor prognosis. Early intervention may be lifesaving. Objective: To describe clinical presentation, investigation
Externí odkaz:
https://doaj.org/article/3bbd2685f38547588a298dc2ac61bfa3
Autor:
Filipa Dias Costa, Maria Inês Barreto, Vanda Clemente, Mónica Vasconcelos, Maria Helena Estêvão, Núria Madureira
Publikováno v:
Sleep Science, Vol 7, Iss 1, Pp 53-58 (2014)
Narcolepsy, a chronic disorder of the sleep–wake cycle of multifactorial etiology, is characterized by excessive daytime sleepiness, often associated with cataplexy, hypnagogic/hypnopompic hallucinations and sleep paralysis. Both early clinical sus
Externí odkaz:
https://doaj.org/article/13c571be12544a2bacaaefe578e6f08f
Autor:
Paula Garcia, Rita Moinho, Luísa Diogo, Isabel S. Gonçalves, Carla Pinto, Filipa Dias Costa, Sandra Ferreira
Publikováno v:
Anales de Pediatría, Vol 88, Iss 2, Pp 69-74 (2018)
Resumen: Introducción: El fallo hepático agudo (FHA) secundario a enfermedades metabólicas hereditarias (EMH) es una enfermedad grave infrecuente de mal pronóstico. La intervención temprana puede salvar vidas. Objetivo: Describir la presentació
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::907c3d00a430b2082c3f97d8b91bebf9
http://www.sciencedirect.com/science/article/pii/S1695403317300784
http://www.sciencedirect.com/science/article/pii/S1695403317300784
Autor:
Carla M. A. Pinto, Paula Garcia, Petra A.W. Mooijer, Filipa Dias Costa, Gert Matthijs, Luísa Diogo, Liesbeth Keldermans, Jaak Jaeken, Dulce Quelhas, Sacha Ferdinandusse, Andrea Nogueira Dias
Publikováno v:
JIMD Reports ISBN: 9783662563588
Galactose epimerase deficiency is an inborn error of metabolism due to uridine diphosphate-galactose-4'-epimerase (GALE) deficiency. We report the clinical presentation, genetic and biochemical studies in two siblings with generalized GALE deficiency
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4d52a1641328b3d2babf7f0bbb53ac8
https://doi.org/10.1007/8904_2017_10
https://doi.org/10.1007/8904_2017_10
Publikováno v:
BMJ Case Reports. :bcr-2017
A 15-year-old boy was admitted to a local hospital with high fever, generalised rash and a mild sore throat. He was started on intravenous flucloxacillin and 12 hours later develops a sustained low diastolic blood pressure (DBP), unresponsive to flui
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f966e0aaf2354130ca0d1d30dbdbe63
https://doi.org/10.1136/bcr-2017-223497
https://doi.org/10.1136/bcr-2017-223497
Publikováno v:
BMJ Case Reports. :bcr-2017
A 6-month-old female infant was referred with a 3-day history of low-grade fever, slight nasal congestion and rhinorrhoea. On admission, the clinical findings were unremarkable and she was discharged home. However, she became progressively more listl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3537bef3f0b645e20d7fe50db54d37be
https://doi.org/10.1136/bcr-2017-219716
https://doi.org/10.1136/bcr-2017-219716
Publikováno v:
Case Reports. 2015:bcr2014209115-bcr2014209115
Acute neonatal parotitis (ANP) is a rare condition, characterised by parotid swelling and other local inflammatory signs. The most common pathogen is Staphylococcus aureus, but other organisms can be implicated. We describe the case of a 13-day-old t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3163c28449e241f0c4ebfc073aa7d5b4
https://doi.org/10.1136/bcr-2014-209115
https://doi.org/10.1136/bcr-2014-209115