TRASTORNOS CONGÉNITOS DEL METABOLISMO
Hospital Regional Universitario de Málaga
Málaga, EspañaPublicaciones en colaboración con investigadores/as de Hospital Regional Universitario de Málaga (8)
2024
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Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry
Neuromuscular Disorders, Vol. 34, pp. 1-8
2023
2022
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Vitamin C and folate status in hereditary fructose intolerance
European Journal of Clinical Nutrition, Vol. 76, Núm. 12, pp. 1733-1739
2021
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Boosting mitochondria activity by silencing MCJ overcomes cholestasis-induced liver injury
JHEP Reports, Vol. 3, Núm. 3
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Transferrin isoforms, old but new biomarkers in hereditary fructose intolerance
Journal of Clinical Medicine, Vol. 10, Núm. 13
2020
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Non-alcoholic fatty liver in hereditary fructose intolerance
Clinical Nutrition, Vol. 39, Núm. 2, pp. 455-459
2019
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Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders
Journal of pharmaceutical and biomedical analysis, Vol. 176, pp. 112798
2015
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Morbidity and mortality in the antiphospholipid syndrome during a 10-year period: A multicentre prospective study of 1000 patients
Annals of the Rheumatic Diseases, Vol. 74, Núm. 6, pp. 1011-1018