Maria A. Bueno
Sevilla, AN, Spain
Last Updated: 09/26/2026
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Found 13 publications
Antisense Oligonucleotide Rescue of Deep-Intronic Variants Activating Pseudoexons in the 6-Pyruvoyl-Tetrahydropterin Synthase Gene.
Journal: Nucleic acid therapeutics
Published: July 14, 2022
Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.
Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.
Journal: Journal of inherited metabolic disease
Published: January 13, 2022
Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain.
Journal: Medicine
Published: October 03, 2019
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
Journal: Journal of inherited metabolic disease
Published: February 19, 2019
Asymmetric dimethylarginine as a potential biomarker for management and follow-up of phenylketonuria.
Journal: European journal of pediatrics
Published: December 21, 2018
Non-alcoholic fatty liver in hereditary fructose intolerance.
Journal: Clinical nutrition (Edinburgh, Scotland)
Published: September 18, 2018
Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.
Journal: Journal of human genetics
Published: August 05, 2016
Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.
Journal: Journal of human genetics
Published: November 10, 2015
Corrigendum to "Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: impact on growth in PKU" [Mol. Genet. Metab. 109 (2013) 331-338].
Journal: Molecular genetics and metabolism
Published: April 17, 2015
Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: February 28, 2015
Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: impact on growth in PKU.
Journal: Molecular genetics and metabolism
Published: May 24, 2013
Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain.
Journal: Journal of human genetics
Published: March 22, 2013
Last Updated: 09/26/2026