Publicacións nas que colabora con Irene Vieitez González (17)
2024
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Plasma IGFBP-3 and IGFBP-5 levels are decreased during acute manic episodes in bipolar disorder patients
Frontiers in Pharmacology, Vol. 15
2023
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Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation
Orphanet Journal of Rare Diseases, Vol. 18, Núm. 1
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Morphological Hallmarks of Classical Fabry Disease: An Ultrastructural Study in a Large Spanish Family
Journal of Clinical Medicine, Vol. 12, Núm. 17
2022
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Author Correction: Long COVID in hospitalized and non-hospitalized patients in a large cohort in Northwest Spain, a prospective cohort study (Scientific Reports, (2022), 12, 1, (3369), 10.1038/s41598-022-07414-x)
Scientific Reports
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Description of the first Spanish case of Gerstmann–Sträussler–Scheinker disease with A117V variant: clinical, histopathological and biochemical characterization
Journal of Neurology, Vol. 269, Núm. 8, pp. 4253-4263
2020
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Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)
Orphanet Journal of Rare Diseases, Vol. 15, Núm. 1
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Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)
Orphanet Journal of Rare Diseases, Vol. 15, Núm. 1
2018
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Fabry disease in the Spanish population: Observational study with detection of 77 patients
Orphanet Journal of Rare Diseases, Vol. 13, Núm. 1
2014
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Loss of GABAergic cortical neurons underlies the neuropathology of Lafora disease
Molecular Brain, Vol. 7, Núm. 1
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Treatment of lysosomal storage diseases: Recent patents and future strategies
Recent Patents on Endocrine, Metabolic and Immune Drug Discovery, Vol. 8, Núm. 1, pp. 9-25
2012
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Genotypic and phenotypic features of McArdle disease: Insights from the Spanish national registry
Journal of Neurology, Neurosurgery and Psychiatry, Vol. 83, Núm. 3, pp. 322-328
2011
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Molecular and clinical study of McArdle's disease in a cohort of 123 European patients. Identification of 20 novel mutations
Neuromuscular Disorders, Vol. 21, Núm. 12, pp. 817-823
2010
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Chorionic villi ultrastructure in the prenatal diagnosis of glycogenosis type II
Journal of Inherited Metabolic Disease, Vol. 33, Núm. SUPPL. 3
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Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease
Human Genetics
2009
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Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.
Human genetics, Vol. 125, Núm. 3, pp. 335
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Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.
Human genetics, Vol. 125, Núm. 3, pp. 349
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Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.
Human genetics, Vol. 125, Núm. 3, pp. 339