LUIS
ALDÁMIZ-ECHEVARRÍA AZUARA
Ikertzailea 2020-(e)ra arte
Hospital Vall d'Hebron
Barcelona, EspañaHospital Vall d'Hebron-ko ikertzaileekin lankidetzan egindako argitalpenak (6)
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
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Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene
Journal of Inherited Metabolic Disease, Vol. 44, Núm. 2, pp. 401-414
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
2011
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Tyrosinemia type 1 in Spain: Mutational analysis, treatment and long-term outcome
Pediatrics International, Vol. 53, Núm. 6, pp. 985-989
2010
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Recommendations and management of type i hereditary or hepatorenal tyrosinemia
Anales de Pediatria, Vol. 73, Núm. 5