Výsledky vyhledávání - "Mónica, Rebollo"

Akademický článek

White matter microstructural damage in early treated phenylketonuric patients

Autor: María Julieta González, Mónica Rebollo Polo, Pablo Ripollés, Rosa Gassió, Aída Ormazabal, Cristina Sierra, Roser Colomé Roura, Rafael Artuch, Jaume Campistol

Publikováno v: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-12 (2018)

Abstract Background Despite dietary intervention, individuals with early treated phenylketonuria (ETPKU) could present neurocognitive deficits and white matter (WM) abnormalities. The aim of the present study was to evaluate the microstructural integ

Externí odkaz: https://doaj.org/article/399cb022badc430f8216d6fd895aae4a

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Akademický článek

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US of the Spine in Neonates and Infants: A Practical Guide

Autor: Emilio J. Inarejos Clemente, María Navallas Irujo, Oscar M. Navarro, Bárbara Salas Flores, Paulino Sousa Cacheiro, Enrique Ladera, Mónica Rebollo Polo, Marta Tijerín Bueno, Ignasi Barber Martínez de la Torre

Publikováno v: RadioGraphics. 43

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::aaa61f042e5fe9c652a380099b0f3c23
https://doi.org/10.1148/rg.220136

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Autoinflammatory diseases in childhood, part 1: monogenic syndromes

Autor: María Navallas, Emilio J. Inarejos Clemente, Estíbaliz Iglesias, Mónica Rebollo-Polo, Faizah Mohd Zaki, Oscar M. Navarro

Publikováno v: Pediatric Radiology. 50:415-430

Autoinflammatory diseases constitute a family of disorders defined by aberrant stimulation of inflammatory pathways without involving antigen-directed autoimmunity. They may be divided into monogenic and polygenic types. Monogenic autoinflammatory sy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3988685586a5b5176b94256b06606a3e
https://doi.org/10.1007/s00247-019-04536-9

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Cytokine profile and brain biopsy in a case of childhood-onset central nervous system vasculitis in Noonan syndrome-like disorder due to a novel CBL variant

Autor: Juan Darío Ortigoza-Escobar, Mariona Fernández de Sevilla, Laura Monfort, Jordi Antón, Estibaliz Iglesias, Mónica Rebollo, Cristina del-Prado-Sánchez, Juan I. Arostegui, Anna Mensa-Vilaró, Laia Alsina, Carmen Rodriguez-Vigil Iturrate, Charlotte M. Niemeyer, Cristina Jou, Albert Catalá

Publikováno v: Journal of neuroimmunology. 369

The authors describe a 5-year-old girl who developed a Noonan syndrome-like disorder as a result of the CBL c.1194CG/p.His398Gln variant, including headache, papilledema, intracranial hypertension, hyperproteinorrhachia, leucorrhachia, and brain infl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d904675e9d6b682ae60a026582e48526
https://pubmed.ncbi.nlm.nih.gov/35717738

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The diagnosis of the first-documented intragenic KANSL1 microduplication patient broadens the genetic spectrum of Koolen de Vries syndrome

Autor: Loreto Martorell, Delia Yubero, Esther Cuatrecasas Capdevila, Guerau Fernández Isern, Diana Salinas, Rosanna Mari Vico, Mónica Rebollo, Jordi Muchart, Judith Armstrong, Juan Darío Ortigoza‐Escobar

Publikováno v: Clinical geneticsREFERENCES. 101(5-6)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::784b5d9e14bff738b4ed13cea9789546
https://pubmed.ncbi.nlm.nih.gov/35191016

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Robot-assisted, real-time, MRI-guided laser interstitial thermal therapy for pediatric patients with hypothalamic hamartoma: surgical technique, pitfalls, and initial results

Autor: Santiago Candela-Cantó, Jordi Muchart, Alia Ramírez-Camacho, Victoria Becerra, Mariana Alamar, Anna Pascual, Carolina Forero, Mónica Rebollo Polo, Josep Munuera, Javier Aparicio, Jordi Rumià, José Hinojosa

Publikováno v: Journal of neurosurgery. Pediatrics.

OBJECTIVE Real-time, MRI-guided laser interstitial thermal therapy (MRgLITT) has been reported as a safe and effective technique for the treatment of epileptogenic foci in children and adults. After the recent approval of MRgLITT by the European Medi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55159c899a121f48a00fd7a742648c1f
https://pubmed.ncbi.nlm.nih.gov/35334464

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Copper Toxicity Associated With an ATP7A-Related Complex Phenotype

Autor: Andrés Nascimento, Angels García-Cazorla, Abel Sola, Jaume Colomer, Daniel Natera-de Benito, Carlos Ortez, Jordi Muchart, Susana Boronat, Judith Armstrong, Paulo Rego Sousa, Francesc Palau, Cristina Jou, Janet Hoenicka, Mónica Rebollo, Jessica Expósito-Escudero, Laura Carrera-García

Publikováno v: PEDIATRIC NEUROLOGY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

Background: The ATP7A gene encodes a copper transporter whose mutations cause Menkes disease, occipital horn syndrome (OHS), and, less frequently, ATP7A-related distal hereditary motor neuropathy (dHMN). Here we describe a family with OHS caused by a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ab1612c7f928bafcaf901dd15005785
https://pubmed.ncbi.nlm.nih.gov/33894639

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