LUIS
ALDÁMIZ-ECHEVARRÍA AZUARA
Chercheur jusqu' 2020
Complexo Hospitalario Universitario de Santiago
Santiago de Compostela, EspañaPublications en collaboration avec des chercheurs de Complexo Hospitalario Universitario de Santiago (30)
2022
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Postauthorization safety study of betaine anhydrous
Journal of Inherited Metabolic Disease, Vol. 45, Núm. 4, pp. 719-733
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
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Treatment adherence in tyrosinemia type 1 patients
Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1
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
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Non-alcoholic fatty liver in hereditary fructose intolerance
Clinical Nutrition, Vol. 39, Núm. 2, pp. 455-459
2019
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Betaine anhydrous in homocystinuria: Results from the RoCH registry
Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1
2018
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Carbohydrate status in patients with phenylketonuria
Orphanet Journal of Rare Diseases, Vol. 13, Núm. 1
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New CTSA mutation in early infantile galactosialidosis
Pediatrics International
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Retrospective study to identify risk factors for chronic kidney disease in children with congenital solitary functioning kidney detected by neonatal renal ultrasound screening
Medicine (United States), Vol. 97, Núm. 32
2017
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Influence of phenylketonuria's diet on dimethylated arginines and methylation cycle
Medicine (United States), Vol. 96, Núm. 27
2016
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Lipid profile status and other related factors in patients with Hyperphenylalaninaemia
Orphanet Journal of Rare Diseases, Vol. 11, Núm. 1
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Molecular epidemiology, genotype-phenotype correlation and BH 4 responsiveness in Spanish patients with phenylketonuria
Journal of Human Genetics, Vol. 61, Núm. 8, pp. 731-744
2015
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Corrigendum to "Risk factors for developing mineral bone disease in phenylketonuric patients" [Mol. Genet. Metab. 108 (2013) 149-154]
Molecular Genetics and Metabolism
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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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Dimethylarginines as biomarkers for the kidney transplant management in methylmalonic aciduria
Nephrology, Vol. 20, Núm. 8, pp. 576-579
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Micronutrient in hyperphenylalaninemia
Data in Brief
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Phenylketonuria's impact on physical growth in a Spanish cohort
Phenylalanine: Dietary Sources, Functions and Health Effects (Nova Science Publishers, Inc.), pp. 27-48
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Sanfilippo syndrome: Overall review
Pediatrics International, Vol. 57, Núm. 3, pp. 331-338
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Utilidad de los marcadores de remodelado óseo en la detección de enfermedad mineral ósea en pacientes con fenilcetonuria
Medicina Clinica, Vol. 144, Núm. 5, pp. 193-197
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Vitamin and mineral status in patients with hyperphenylalaninemia
Molecular Genetics and Metabolism, Vol. 115, Núm. 4, pp. 145-150