Výsledky vyhledávání - "F. X. Sanmarti"

[Use of benzodiazepines in prolonged seizures and status epilepticus in the community]

Autor: R, Sánchez-Carpintero, R, Camino, P, Smeyers, M, Raspall-Chaure, A, Martínez-Bermejo, M L, Ruiz-Falcó, A, Verdú, F X, Sanmarti, O, Blanco, J, Santos Borbujo, G, Picó, M A, Cebollero

Publikováno v: Anales de pediatria (Barcelona, Spain : 2003). 81(6)

Prolonged seizures and status epilepticus are common neurological medical emergencies. Early and appropriate treatment is essential to reduce morbidity and mortality. Most seizures occur in the community, so parents and caregivers must be prepared fo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ba6096eee5e4c8663e96b3398a24a345
https://pubmed.ncbi.nlm.nih.gov/25441206

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Neuronopathic juvenile glucosylceramidosis due to sap -C deficiency: clinical course, neuropathology and brain lipid composition in this Gaucher disease variant

Autor: F. X. Sanmarti, V. Cusi, M. Pineda, Isidro Ferrer, H. Christomanou, A. Chabás, M. Girós, T. Pámpols, Marie T. Vanier

Publikováno v: ACTA NEUROPATHOLOGICA
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

Glucosylceramide lipidosis results from a defective lysosomal degradation of this glycolipid. Lipid degradation is controlled by two components, the enzyme beta-glucocerebrosidase and a sphingolipid activator protein. While most Gaucher cases are due

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3106f019d72fc6376f9b7fcc65eba545
https://doi.org/10.1007/s004010050960

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[Episodes of apnea in an infant: unusual forms of epileptic seizures]

Autor: F X, Sanmarti, E, Estivill, J, Campistol, J, Roger, E, Fernandez-Alvarez

Publikováno v: Revue d'electroencephalographie et de neurophysiologie clinique. 14(4)

The authors report the observation of an infant who begins at the age of 7 months to present episodes of epileptic apnea with cyanosis, lost of consciousness, hypotony and sometimes ocular revulsion and distal myoclonia. From their onset there are se

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::205f9996ea5f6563390f60098051eae6
https://pubmed.ncbi.nlm.nih.gov/2410959

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[Comb-like rhythm: an EEG pattern peculiar to leucinosis]

Autor: E, Estivill, F X, Sanmarti, R, Vidal, R, Alvira, I, Lizarraga, J, Linares

Publikováno v: Anales espanoles de pediatria. 22(2)

EEG and clinical aspects of a newborn baby with maple syrup urine disease are presented. EEG shows in central areas "Comb-like rhytms" with pseudo-periodic background activity. These patterns seem peculiar to maple syrup urine disease according to Tr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e18675b8a0337c32e84e0ed14d972ecd
https://pubmed.ncbi.nlm.nih.gov/3985504

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[Considerations on neonatal epileptic encephalopathies apropos of a personal case]

Autor: E, Estivill, F X, Sanmarti, E, Schossland, M, Pineda

Publikováno v: Revue d'electroencephalographie et de neurophysiologie clinique. 14(3)

Studies were done on a newborn with tonic status seizures beginning at 15 days old to his death at 3 months of age. The clinical features were: (1) important psychomotor retardation; (2) tonic seizures consisting of flexion or extension of the upper

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::13617abccb844cae3ed6672497f1c1a3
https://pubmed.ncbi.nlm.nih.gov/6528074

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