María Bueno

Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry

Martina Huemer, Daria Diodato, Diego Martinelli et al. · Journal of Inherited Metabolic Disease · 2019 · 76 citations · Full text

Public Health, Genetics, Molecular Medicine +15

Fatty acid profile in patients with phenylketonuria and its relationship with bone mineral density

Sergio Lage, María Bueno, Fernando Andrade et al. · Journal of Inherited Metabolic Disease · 2010 · 61 citations

Medicine, Biochemistry, Nutritional Sciences +14

Non-alcoholic fatty liver in hereditary fructose intolerance

Luis Aldámiz‐Echevarría, Javier de las Heras, María L. Couce et al. · Clinical Nutrition · 2019 · 46 citations · Full text

Medicine, Internal Medicine, Pathology +13

Carnitine-Acylcarnitine Translocase Deficiency: Experience with Four Cases in Spain and Review of the Literature

Isidro Vitoria, Elena Martín‐Hernández, Luis Peña Quintana et al. · JIMD Reports · 2014 · 45 citations

Life Sciences, Genetics, Pediatrics +15

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency

María L. Couce, Paula Sánchez‐Pintos, Luísa Diogo et al. · Orphanet Journal of Rare Diseases · 2013 · 29 citations · Full text

Medicine, Genetics, Pediatrics +17