Judith Garcia-Villoria
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Explore the profile of Judith Garcia-Villoria including associated specialties, affiliations and a list of published articles.
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6
Citations
58
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0
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Recent Articles
1.
Perramon M, Navalon-Lopez M, Fernandez-Varo G, Moreno-Lanceta A, Garcia-Perez R, Faneca J, et al.
Biomed Pharmacother
. 2024 Jan;
171:116143.
PMID: 38219387
Nitric oxide (NO) is a small vasodilator playing a key role in the pathogenesis of portal hypertension. Here, we assessed the potential therapeutic effect of a NO donor targeted to...
2.
Hernandez-Camacho J, Fernandez-Ayala D, Vicente-Garcia C, Navas-Enamorado I, Lopez-Lluch G, Oliva C, et al.
Front Physiol
. 2022 Aug;
13:898792.
PMID: 35936917
ADCK2 haploinsufficiency-mediated mitochondrial coenzyme Q deficiency in skeletal muscle causes mitochondrial myopathy associated with defects in beta-oxidation of fatty acids, aged-matched metabolic reprogramming, and defective physical performance. Calorie restriction has...
3.
Tort F, Garcia-Silva M, Ferrer-Cortes X, Navarro-Sastre A, Garcia-Villoria J, Coll M, et al.
Mol Genet Metab
. 2013 May;
110(1-2):73-7.
PMID: 23707711
3-Methylglutaconic aciduria (3-MGA-uria) is a heterogeneous group of syndromes characterized by an increased excretion of 3-methylglutaconic and 3-methylglutaric acids. Five types of 3-MGA-uria (I to V) with different clinical presentations...
4.
Couce M, Lopez-Suarez O, Boveda M, Castineiras D, Cocho J, Garcia-Villoria J, et al.
Eur J Paediatr Neurol
. 2013 Feb;
17(4):383-9.
PMID: 23395213
Patients with Glutaric aciduria type 1 (GA-1) can be identified by newborn screening using tandem mass spectrometry. The clinical evolution of screened patients seems to be more favourable compared with...
5.
Ortez C, Villar C, Fons C, Duarte S, Perez A, Garcia-Villoria J, et al.
J Alzheimers Dis
. 2011 Aug;
27(2):253-7.
PMID: 21841256
17β-hydroxysteroid dehydrogenase 10 (HSD10) deficiency is a rare X-linked inborn error of isoleucine catabolism. Although this protein has been genetically implicated in Alzheimer's disease pathogenesis, studies of amyloid-β peptide (Aβ)...
6.
Sempere A, Arias A, Farre G, Garcia-Villoria J, Rodriguez-Pombo P, Desviat L, et al.
J Inherit Metab Dis
. 2010 Jan;
33(1):1-7.
PMID: 20049533
Mental retardation (MR) is a common disorder frequently of unknown origin. Because there are few studies regarding MR and inborn errors of metabolism (IEM), we aimed to identify patients with...