Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Scarlet Witting"'
Publikováno v:
IEEE Access, Vol 10, Pp 32912-32927 (2022)
Neonatal seizures are sudden events in brain activity with detrimental effects in neurological functions usually related to epileptic fits. Though neonatal seizures can be identified from electroencephalography (EEG), this is a challenging endeavour
Externí odkaz:
https://doaj.org/article/69f50b2f9df44fd68fdf70c11e612e4e
Autor:
Mónica Troncoso, Fernanda Balut, Scarlet Witting, Carla Rubilar, Jorge Carrera, Fabiola Cartes, Luisa Herrera
Publikováno v:
Clinical Case Reports, Vol 9, Iss 5, Pp n/a-n/a (2021)
Abstract It is key to expand the differential diagnosis and consider possible genetic etiologies on a patient with congenital cataracts associated with clinical features, such as leukodystrophy or polyneuropathy.
Externí odkaz:
https://doaj.org/article/fd18fa244eae47f499079de1968b87b8
Autor:
José Miguel Cárdenas, Diane Vergara, Scarlet Witting, Fernanda Balut, Patricio Guerra, José Tomás Mesa, Sebastián Silva, Javiera Tello, Alvaro Retamales, Andrés Barrios, Fernando Pinto, Víctor Faundes, Mónica Troncoso
Publikováno v:
Molecular Syndromology. :1-12
Introduction: Morquio syndrome or mucopolysaccharidosis type IV-A (MPS IV-A) is an autosomal recessive disease caused by biallelic variants in the GALNS gene, encoding the lysosomal enzyme GalN6S, responsible for glycosaminoglycan keratan sulfate and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d5ec15fe27cdcd07381b71cea1002db7
https://doi.org/10.1159/000529807
https://doi.org/10.1159/000529807
Autor:
Obdulia Sánchez‐Lijarcio, Delia Yubero, Fátima Leal, María L. Couce, Luis González Gutiérrez‐Solana, Eduardo López‐Laso, Àngels García‐Cazorla, Leticia Pías‐Peleteiro, Begoña de Azua Brea, Salvador Ibáñez‐Micó, Gonzalo Mateo‐Martínez, Monica Troncoso‐Schifferli, Scarlet Witting‐Enriquez, Magdalena Ugarte, Rafael Artuch, Belén Pérez
Publikováno v:
Biblos-e Archivo. Repositorio Institucional de la UAM
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Glucose transporter 1 deficiency syndrome (GLUT1DS) is a neurometabolic disorder caused by haploinsufficiency of the GLUT1 glucose transporter (encoded by SLC2A1) leading to defective glucose transport across the blood–brain barrier. This work desc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6e4e022f9557bf03720f29cf71e8e53
https://doi.org/10.1111/cge.14138
https://doi.org/10.1111/cge.14138
Publikováno v:
Epileptic Disorders. 23:951-953
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51c0d76b05cb649320973d64af38c431
https://doi.org/10.1684/epd.2021.1346
https://doi.org/10.1684/epd.2021.1346
Autor:
Carla Rubilar, Mónica Troncoso, Luisa Herrera, Scarlet Witting, F. Balut, Fabiola Cartes, Jorge Carrera
Publikováno v:
Clinical Case Reports
Clinical Case Reports, Vol 9, Iss 5, Pp n/a-n/a (2021)
Clinical Case Reports, Vol 9, Iss 5, Pp n/a-n/a (2021)
It is key to expand the differential diagnosis and consider possible genetic etiologies on a patient with congenital cataracts associated with clinical features, such as leukodystrophy or polyneuropathy.
It is key to expand the differential diag
It is key to expand the differential diag
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6038986a0164d9ac98603f3a667cec33
https://doi.org/10.1002/ccr3.4171
https://doi.org/10.1002/ccr3.4171
Autor:
María J, Rebollo G, Ximena, Díaz Sm, Marcela, Soto R, Johanna, Pacheco A, Scarlet, Witting E, Isidora, Daroch R, Francisco, Moraga M
Publikováno v:
Revista chilena de pediatria. 91(5)
Epilepsy affects 0.5 to 1% of the population. 25% of pediatric patients have drug-resistant epilepsy (DRE). Ketogenic Diet (KD) emerges as an effective, non-pharmacological treatment in this group.To describe the effect of KD on seizure control and n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::52af801121f49aee7945ed6636250426
https://pubmed.ncbi.nlm.nih.gov/33399634
https://pubmed.ncbi.nlm.nih.gov/33399634
Autor:
Patricia Pons, Mónica Troncoso, Raquel Dodelson de Kremer, Graciela Alonso, Ana María Oller-Ramírez, Katherine B. Sims, Winnie Xin, Norberto Guelbert, Scarlet Witting, Romina Kohan, Inés Adriana Cismondi, Inés Noher de Halac, David A. Pearce, María Noelia Carabelos
Publikováno v:
Gene. 516:114-121
Tripeptidyl-peptidase 1 (TPP1) null or residual activity occurs in neuronal ceroid lipofuscinosis (NCL) with underlying TPP1/CLN2 mutations. A survey of 25 South American CLN2 affected individuals enabled the differentiation of two phenotypes: classi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ad0a22e6ea13a77486b5e4fb3dcce55
https://doi.org/10.1016/j.gene.2012.12.058
https://doi.org/10.1016/j.gene.2012.12.058
Akademický článek
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Autor:
K. Henríquez, V. Saez, F. Balut, Mónica Troncoso, A.N.A. Flandes, G. Guzmán, Scarlet Witting, Claudia López, C. Coria, C. Díaz, A. Barrios
Publikováno v:
Journal of the Neurological Sciences. 357:e438
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::14e607b2956f1b24e2b5a01a2e271f0f
https://doi.org/10.1016/j.jns.2015.09.070
https://doi.org/10.1016/j.jns.2015.09.070