LUIS
ALDÁMIZ-ECHEVARRÍA AZUARA
Forscher bis um 2020
Hospital Infantil Universitario Niño Jesus de Madrid
Madrid, EspañaPublikationen in Zusammenarbeit mit Forschern von Hospital Infantil Universitario Niño Jesus de Madrid (3)
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
2008
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Methylmalonic acidaemia: Examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group
Journal of Inherited Metabolic Disease, Vol. 31, Núm. 1, pp. 55-66