María Luz Couce Pico-rekin lankidetzan egindako argitalpenak (10)
2023
2022
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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
2019
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AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG)
Annals of Neurology, Vol. 85, Núm. 5, pp. 740-751
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Asymmetric dimethylarginine as a potential biomarker for management and follow-up of phenylketonuria
European Journal of Pediatrics
2018
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Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG
Neuropediatrics, Vol. 49, Núm. 6, pp. 408-413
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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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Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry
Journal of Inherited Metabolic Disease
2017
2013
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Clinical manifestations in female carriers of mucopolysaccharidosis type II: A spanish cross-sectional study
Orphanet Journal of Rare Diseases, Vol. 8, Núm. 1
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Guía de prá ctica clínica para el tratamiento del síndrome de Hunter
Medicina Clinica, Vol. 141, Núm. 10