Publicaciones en las que colabora con LUIS JOSE ALDAMIZ-ECHEVARRIA AZUARA (15)

2016

  1. Methionine and S-adenosylmethionine levels are critical regulators of PP2A activity modulating lipophagy during steatosis

    Journal of Hepatology, Vol. 64, Núm. 2, pp. 409-418

2015

  1. 6R-tetrahydrobiopterin treated PKU patients below 4years of age: Physical outcomes, nutrition and genotype

    Molecular Genetics and Metabolism, Vol. 115, Núm. 1, pp. 10-16

  2. Corrigendum to "Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: Impact on growth in PKU" [Mol. Genet. Metab. 109 (2013) 331-338]

    Molecular Genetics and Metabolism

  3. Quantification of arginine and its methylated derivatives in healthy children by liquid chromatography-tandem mass spectrometry

    Journal of Chromatographic Science, Vol. 53, Núm. 5, pp. 787-792

2014

  1. Anthropometric characteristics and nutrition in a cohort of PAH-deficient patients

    Clinical Nutrition, Vol. 33, Núm. 4, pp. 702-717

2013

  1. Arginine-guanidinoacetate-creatine pathway in preterm newborns: Creatine biosynthesis in newborns

    Journal of Pediatric Endocrinology and Metabolism, Vol. 26, Núm. 1-2, pp. 53-60

  2. Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: Impact on growth in PKU

    Molecular Genetics and Metabolism, Vol. 109, Núm. 4, pp. 331-338

2012

  1. Expression of proinflammatory factors in renal cortex induced by methylmalonic acid

    Renal Failure, Vol. 34, Núm. 7, pp. 885-891

  2. New evidence for assessing tetrahydrobiopterin (BH4) responsiveness

    Metabolism: Clinical and Experimental, Vol. 61, Núm. 12, pp. 1809-1816

  3. Polyunsaturated fatty acids and growth in healthy children and some rare diseases

    Handbook of Growth and Growth Monitoring in Health and Disease (Springer New York), pp. 2597-2618

2011

  1. A large TAT deletion in a tyrosinaemia type II patient

    Molecular Genetics and Metabolism, Vol. 104, Núm. 3, pp. 407-409

  2. Comparison of plasma and dry blood spots as samples for the determination of nitisinone (NTBC) by high-performance liquid chromatography-tandem mass spectrometry. Study of the stability of the samples at different temperatures

    Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences, Vol. 879, Núm. 11-12, pp. 671-676

  3. Reliability of a visual test for the rapid detection of mucopolysaccharidoses: GAG-test®

    Journal of Clinical Laboratory Analysis, Vol. 25, Núm. 3, pp. 179-184

2010

  1. Fatty acid profile in patients with phenylketonuria and its relationship with bone mineral density

    Journal of Inherited Metabolic Disease, Vol. 33, Núm. SUPPL. 3

  2. Optic neuropathy in methylmalonic acidemia: The role of neuroprotection

    Journal of Inherited Metabolic Disease, Vol. 33, Núm. SUPPL. 3