GI-1345 Medicina Neonatal e do Desarrollo
GI-1345
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Instituto de Investigación Sanitaria Biocruces Bizkaia
Barakaldo, EspañaPublicacións en colaboración con investigadores/as de Instituto de Investigación Sanitaria Biocruces Bizkaia (17)
2024
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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
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Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain
Journal of Clinical Medicine, Vol. 11, Núm. 17
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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
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Vitamin C and folate status in hereditary fructose intolerance
European Journal of Clinical Nutrition, Vol. 76, Núm. 12, pp. 1733-1739
2021
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Transferrin isoforms, old but new biomarkers in hereditary fructose intolerance
Journal of Clinical Medicine, Vol. 10, Núm. 13
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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
2018
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New CTSA mutation in early infantile galactosialidosis
Pediatrics International
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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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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Dimethylarginines as biomarkers for the kidney transplant management in methylmalonic aciduria
Nephrology, Vol. 20, Núm. 8, pp. 576-579
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Effects of different arachidonic acid supplementation on psychomotor development in very preterm infants; A randomized controlled trial
Nutrition Journal, Vol. 14, Núm. 1
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Sanfilippo syndrome: Overall review
Pediatrics International, Vol. 57, Núm. 3, pp. 331-338