LUIS
ALDÁMIZ-ECHEVARRÍA AZUARA
Ikertzailea 2020-(e)ra arte
Hospital Universitario 12 de Octubre
Madrid, EspañaHospital Universitario 12 de Octubre-ko ikertzaileekin lankidetzan egindako argitalpenak (5)
2021
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Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis
Journal of Inherited Metabolic Disease, Vol. 44, Núm. 3, pp. 677-692
2020
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Complex I deficiency, due to NDUFAF4 mutations, causes severe mitochondrial dysfunction and is associated to early death and dysmorphia
Mitochondrion, Vol. 55, pp. 78-84
2019
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Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain
Medicine (United States), Vol. 98, Núm. 39
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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
2017
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Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia
Journal of Human Genetics, Vol. 62, Núm. 3, pp. 355-360