Javier Adolfo
de las Heras Montero
Hospital Universitario Nuestra Señora de Candelaria
Santa Cruz de Tenerife, EspañaPublications en collaboration avec des chercheurs de Hospital Universitario Nuestra Señora de Candelaria (4)
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
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Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants
Scientific Reports, Vol. 14, Núm. 1
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