Enfermidades Raras e Medicina Pediátrica
Instituto de Investigación Sanitaria La Fe
Valencia, EspañaPublicacións en colaboración con investigadores/as de Instituto de Investigación Sanitaria La Fe (8)
2023
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Coeliac Disease Case–Control Study: Has the Time Come to Explore beyond Patients at Risk?
Nutrients, Vol. 15, Núm. 5
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“Geographical distribution of risk genotypes in pediatric patients with celiac disease in Spain”
Human Immunology, Vol. 84, Núm. 4, pp. 290-295
2022
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Correlation of Anti-Tissue Transglutaminase Antibodies With the Mucosal Changes and IgA Status of Children With Celiac Disease
Journal of pediatric gastroenterology and nutrition, Vol. 75, Núm. 6, pp. 743-748
2020
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Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia
Journal of Medical Genetics, Vol. 57, Núm. 9, pp. 643-646
2017
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Evolution of energy related metabolites in plasma from newborns with hypoxic-ischemic encephalopathy during hypothermia treatment
Scientific Reports, Vol. 7, Núm. 1
2012
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Erratum to: Knecht E, Criado-García O, Aguado C, Gayarre J, Duran-Trio L, Garcia-Cabrero AM, et al. Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease (Autophagy (2012) 8, (701-703))
Autophagy
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Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy
Human Molecular Genetics, Vol. 21, Núm. 7, pp. 1521-1533
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Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease
Autophagy