![Foto de Luis](/img/nophoto.png)
Luis
Aldamiz-Echevarria Azuara
Publicacións nas que colabora con Luis Aldamiz-Echevarria Azuara (49)
2024
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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Cribado selectivo de la hipofosfatasia en la población pediátrica del País Vasco
Boletín de la Sociedad Vasco-Navarra de pediatría = Euskal Herriko Pediatria Elkartearen aldizkaria, Núm. 121, pp. 14-17
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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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Asymmetric dimethylarginine as a potential biomarker for management and follow-up of phenylketonuria
European Journal of Pediatrics, Vol. 178, Núm. 6, pp. 903-911
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Betaine anhydrous in homocystinuria: Results from the RoCH registry
Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1
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Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain
Medicine (United States), Vol. 98, Núm. 39
2018
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Carbohydrate status in patients with phenylketonuria
Orphanet Journal of Rare Diseases, Vol. 13, Núm. 1
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Dislipemias genéticas
Protocolos de diagnóstico y tratamiento de los errores congénitos del metabolismo (Ergon), pp. 135-154
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Manual clínico del cribado metabólico
Servicio de Publicaciones e Intercambio Científico
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New CTSA mutation in early infantile galactosialidosis
Pediatrics International
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Protocolo de homocistinuria
Protocolos de diagnóstico y tratamiento de los errores congénitos del metabolismo (Ergon), pp. 167-180
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Protocolo para el diagnóstico y tratamiento de tirosinemia tipo I
Protocolos de diagnóstico y tratamiento de los errores congénitos del metabolismo (Ergon), pp. 125-134
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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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Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia
Journal of Human Genetics, Vol. 62, Núm. 3, pp. 355-360
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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