MARIA DE LA LUZ
COUCE PICO
Profesora titular de universidade
Instituto de Investigación Sanitaria Biocruces Bizkaia
Barakaldo, EspañaPublikationen in Zusammenarbeit mit Forschern von Instituto de Investigación Sanitaria Biocruces Bizkaia (17)
2024
-
Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease
Orphanet Journal of Rare Diseases, Vol. 19, Núm. 1
2023
2022
-
Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain
Journal of Clinical Medicine, Vol. 11, Núm. 17
-
Transcriptomic analysis of patients with clinical suspicion of maturity-onset diabetes of the young (MODY) with a negative genetic diagnosis
Orphanet journal of rare diseases, Vol. 17, Núm. 1, pp. 105
-
Vitamin C and folate status in hereditary fructose intolerance
European Journal of Clinical Nutrition, Vol. 76, Núm. 12, pp. 1733-1739
2021
-
Transferrin isoforms, old but new biomarkers in hereditary fructose intolerance
Journal of Clinical Medicine, Vol. 10, Núm. 13
-
Treatment adherence in tyrosinemia type 1 patients
Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1
2020
-
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
-
Non-alcoholic fatty liver in hereditary fructose intolerance
Clinical Nutrition, Vol. 39, Núm. 2, pp. 455-459
2018
-
New CTSA mutation in early infantile galactosialidosis
Pediatrics International
2017
-
Influence of phenylketonuria's diet on dimethylated arginines and methylation cycle
Medicine (United States), Vol. 96, Núm. 27
2016
-
Lipid profile status and other related factors in patients with Hyperphenylalaninaemia
Orphanet Journal of Rare Diseases, Vol. 11, Núm. 1
-
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
-
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
-
Dimethylarginines as biomarkers for the kidney transplant management in methylmalonic aciduria
Nephrology, Vol. 20, Núm. 8, pp. 576-579
-
Effects of different arachidonic acid supplementation on psychomotor development in very preterm infants; A randomized controlled trial
Nutrition Journal, Vol. 14, Núm. 1
-
Sanfilippo syndrome: Overall review
Pediatrics International, Vol. 57, Núm. 3, pp. 331-338