LUIS JOSE
ALDAMIZ-ECHEVARRIA AZUARA
Investigador/a en el periodo 2013-2020
Necker-Enfants Malades Hospital
París, FranciaPublicaciones en colaboración con investigadoras/es de Necker-Enfants Malades Hospital (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
2020
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Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation
Journal of Inherited Metabolic Disease, Vol. 43, Núm. 4, pp. 671-693
2019
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Betaine anhydrous in homocystinuria: Results from the RoCH registry
Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1