Výsledky vyhledávání - "M. Teresa García-Silva"

Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain

Publikováno v: Clinical Genetics, 95, 5, pp. 615-626
CLINICAL GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Clinical Genetics, 95, 615-626
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe

The congenital disorders of glycosylation (CDG) are defects in glycoprotein and glycolipid glycan synthesis and attachment. They affect multiple organ/systems, but non-specific symptoms render the diagnosis of the different CDG very challenging. Phos

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d246b2c5b6da0c6a3a3f9035627572c8
https://hdl.handle.net/2066/203306

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Secondary coenzyme Q(10) deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders

Autor: Federico Ramos, Carmina Espinos, Joaquín Arenas, Aitor Delmiro, Angels Ruiz, Aurelio Hernández-Laín, Judit García-Villoria, Ester López-Gallardo, Mar O'Callaghan, Luísa Diogo, Eva M Martínez Fernández, Alfons Macaya, María Alcázar, Angels García-Cazorla, Carmen Paradas Lópe, Pilar Quijada, Iain P. Hargreaves, Rafael Artuch, Raquel Montero, Manuela Grazina, Cecilia Jimenez-Mallebrera, Marta Simões, Ana Sánchez-Cuesta, Miguel A. Martín, Elena Martín, Cristina Domínguez-González, Plácido Navas, Eva Trevisson, Rainiero Ávila Polo, María V. Cascajo, María Morán, Juan Bautista Lorite, Julio Montoya, Antonia Ribes, Gloria Brea-Calvo, M. Teresa García-Silva, Anna Marcé-Grau, Eloy Rivas Infante, Delia Yubero, Ana Cortés, Andrés Nascimento, Eduardo Ruiz-Pesini, Juan Carlos Rodríguez-Aguilera, Adrián González-Quintana, Mercè Pineda, Cristina Jou, Alberto Blázquez, Angela Arias, Viruna Neergheen, Carlos Ortez, Sonia Emperador, Belén Pérez-Dueñas, Leonardo Salviati, Jaume Colomer

Publikováno v: MITOCHONDRION
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
instname
r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)
Digital.CSIC. Repositorio Institucional del CSIC

CoQ deficiency study group: et al.
We evaluated the coenzyme Q₁₀ (CoQ) levels in patients who were diagnosed with mitochondrial oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders (n = 72). Data from the 72 cases in this study reveal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c49332536d94d5abcb10a521681f770
https://fundanet.cipf.es/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=1465

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Pathogenic mutations in the 5′ untranslated region of BCS1L mRNA in mitochondrial complex III deficiency

Autor: Cristina Ugalde, Alberto Blázquez, Joaquín Arenas, Toni Gabaldón, Sara Seneca, M. Teresa García-Silva, M. Carmen Gil-Borlado, Maritza González-Hoyuela, Miguel A. Martín, Javier Manzanares, Julia Vara

Publikováno v: Vrije Universiteit Brussel

Mutations in the assembly chaperone BCS1L constitute a major cause of mitochondrial complex III deficiency. We studied the presence of BCS1L mutations in a complex III-deficient patient with metabolic acidosis, liver failure, and tubulopathy. A previ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e249ce5311afbfcf5abc3e0225e6616a
https://doi.org/10.1016/j.mito.2009.04.001

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Renal pathology in children with mitochondrial diseases

Autor: Pilar del Hoyo, Miguel A. Martín, Yolanda Campos, Elena Martín-Hernández, M. Teresa García-Silva, Julia Vara, Joaquín Arenas, Ana Cabello, Rafael Muley

Publikováno v: Pediatric Nephrology. 20:1299-1305

We studied renal involvement in 42 children with mitochondrial diseases (MDs). The diagnosis of MD was established by morphological, biochemical, and molecular genetic criteria. Renal disease was considered when patients had renal failure, nephrotic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9d517458d5b17ee03193138e43e43ce
https://doi.org/10.1007/s00467-005-1948-z

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Atypical presentation and delayed diagnosis in a case of primary bile acid synthesis disorder

Autor: M. Teresa García Silva, Cristina Garfia Castillo, Javier Manzanares López-Manzanares

Publikováno v: Medicina Clínica (English Edition). 145:e39-e40

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::154ae3a4f569a33a36084d5e3503e102
https://doi.org/10.1016/j.medcle.2016.04.031

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Presentación atípica y diagnóstico tardío en un caso de déficit primario de ácidos biliares

Autor: Cristina Garfia Castillo, Javier Manzanares López-Manzanares, M. Teresa García Silva

Publikováno v: Medicina Clínica. 145:e39-e40

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::10b3c8d6e0d8889672b24422d5531fed
https://doi.org/10.1016/j.medcli.2015.04.002

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Therapeutic effects of docosahexaenoic acid ethyl ester in patients with generalized peroxisomal disorders

Autor: Javier Manzanares, Isabel Mougan, M. Teresa García-Silva, Francisco Castelló, Elida Vazquez, José M Bertran, Manuela Martinez

Publikováno v: The American Journal of Clinical Nutrition. 71:376S-385S

Generalized peroxisomal disorders are severe congenital diseases that involve the central nervous system, leading to severe psychomotor retardation, retinopathy, liver disease, and early death. In these disorders, peroxisomes are not normally formed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87421fffd175a95314f85751c9acda10
https://doi.org/10.1093/ajcn/71.1.376s

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