SERGIO
LAGE MEDINA
Forscher/in in der Zeit 2006-2019
LUIS JOSE
ALDAMIZ-ECHEVARRIA AZUARA
Forscher/in in der Zeit 2019-2020
Publikationen, an denen er mitarbeitet LUIS JOSE ALDAMIZ-ECHEVARRIA AZUARA (15)
2016
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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
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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
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Corrigendum to "Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: Impact on growth in PKU" [Mol. Genet. Metab. 109 (2013) 331-338]
Molecular Genetics and Metabolism
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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
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Anthropometric characteristics and nutrition in a cohort of PAH-deficient patients
Clinical Nutrition, Vol. 33, Núm. 4, pp. 702-717
2013
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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
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Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: Impact on growth in PKU
Molecular Genetics and Metabolism, Vol. 109, Núm. 4, pp. 331-338
2012
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Expression of proinflammatory factors in renal cortex induced by methylmalonic acid
Renal Failure, Vol. 34, Núm. 7, pp. 885-891
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New evidence for assessing tetrahydrobiopterin (BH4) responsiveness
Metabolism: Clinical and Experimental, Vol. 61, Núm. 12, pp. 1809-1816
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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
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A large TAT deletion in a tyrosinaemia type II patient
Molecular Genetics and Metabolism, Vol. 104, Núm. 3, pp. 407-409
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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
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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
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Fatty acid profile in patients with phenylketonuria and its relationship with bone mineral density
Journal of Inherited Metabolic Disease, Vol. 33, Núm. SUPPL. 3
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Optic neuropathy in methylmalonic acidemia: The role of neuroprotection
Journal of Inherited Metabolic Disease, Vol. 33, Núm. SUPPL. 3