LUIS
ALDÁMIZ-ECHEVARRÍA AZUARA
Investigador hasta 2020
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublicaciones en colaboración con investigadores/as de 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