LUIS
ALDÁMIZ-ECHEVARRÍA AZUARA
Forscher bis um 2020
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublikationen in Zusammenarbeit mit Forschern von Centro de Investigación Biomédica en Red sobre Enfermedades Raras (6)
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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A new metabolic disorder in human cationic amino acid transporter-2 that mimics arginase 1 deficiency in newborn screening
Journal of Inherited Metabolic Disease, Vol. 42, Núm. 3, pp. 407-413
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Asymmetric dimethylarginine as a potential biomarker for management and follow-up of phenylketonuria
European Journal of Pediatrics, Vol. 178, Núm. 6, pp. 903-911
2017
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Update on lysosomal acid lipase deficiency: Diagnosis, treatment and patient management
Medicina Clinica, Vol. 148, Núm. 9, pp. 429.e1-429.e10
2016
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Limited beneficial effects of piceatannol supplementation on obesity complications in the obese Zucker rat: gut microbiota, metabolic, endocrine, and cardiac aspects
Journal of Physiology and Biochemistry, Vol. 72, Núm. 3, pp. 567-582
2009
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Secondary disorders of glycosylation in inborn errors of fructose metabolism
Journal of Inherited Metabolic Disease, Vol. 32, Núm. SUPPL. 1