LUIS JOSE
ALDAMIZ-ECHEVARRIA AZUARA
Investigador/a en el periodo 2013-2020
Hospital de Cruces
Barakaldo, EspañaPublicaciones en colaboración con investigadoras/es de Hospital de Cruces (68)
2021
-
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
-
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene
Journal of Inherited Metabolic Disease, Vol. 44, Núm. 2, pp. 401-414
2020
-
Implementation of an affordable method for MPS diagnosis from urine screening to enzymatic confirmation: Results of a pilot study in Morocco
Clinical Laboratory, Vol. 66, Núm. 3, pp. 391-399
-
Oocytes of women who are obese or overweight have lower levels of n-3 polyunsaturated fatty acids compared with oocytes of women with normal weight
Fertility and Sterility, Vol. 113, Núm. 1, pp. 53-61
2019
-
Asymmetric dimethylarginine as a potential biomarker for management and follow-up of phenylketonuria
European Journal of Pediatrics, Vol. 178, Núm. 6, pp. 903-911
-
Betaine anhydrous in homocystinuria: Results from the RoCH registry
Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1
-
Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain
Medicine (United States), Vol. 98, Núm. 39
2018
-
Carbohydrate status in patients with phenylketonuria
Orphanet Journal of Rare Diseases, Vol. 13, Núm. 1
-
Fabry disease in the Spanish population: Observational study with detection of 77 patients
Orphanet Journal of Rare Diseases, Vol. 13, Núm. 1
-
New CTSA mutation in early infantile galactosialidosis
Pediatrics International
-
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
-
An update on the use of benzoate, phenylacetate and phenylbutyrate ammonia scavengers for interrogating and modifying liver nitrogen metabolism and its implications in urea cycle disorders and liver disease
Expert Opinion on Drug Metabolism and Toxicology, Vol. 13, Núm. 4, pp. 439-448
-
Estudio multicéntrico español: Niños con hiperamoniemia no asociada a errors innatos del metabolismo
Nutricion Hospitalaria, Vol. 34, Núm. 4, pp. 814-819
-
Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia
Journal of Human Genetics, Vol. 62, Núm. 3, pp. 355-360
-
Improvement of newborn screening using a fuzzy inference system
Expert Systems with Applications, Vol. 78, pp. 301-318
-
Profile of sodium phenylbutyrate granules for the treatment of urea-cycle disorders: Patient perspectives
Patient Preference and Adherence, Vol. 11, pp. 1489-1496
-
Update on lysosomal acid lipase deficiency: Diagnosis, treatment and patient management
Medicina Clinica, Vol. 148, Núm. 9, pp. 429.e1-429.e10
2016
-
Effects of maternal omega-3 supplementation on fatty acids and on visual and cognitive development: A randomized trial
World Review of Nutrition and Dietetics
-
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
-
Automatic construction of Fuzzy Inference Systems for computerized clinical guidelines and protocols
Applied Soft Computing Journal, Vol. 26, pp. 257-269