Esmeralda Martins

Clinical presentation and outcome in a series of 88 patients with the cblC defect

Sabine Fischer, Martina Huemer, Matthias R. Baumgartner et al. · Journal of Inherited Metabolic Disease · 2014 · 165 citations · Full text

Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type

Célia Nogueira, Chiara Aiello, R. Cerone et al. · Molecular Genetics and Metabolism · 2008 · 109 citations

Cblc Type, Mendelian Disorder, Genetic Disorder +8

MAN1B1 Deficiency: An Unexpected CDG-II

Daisy Rymen, Romain Péanne, María Beatriz Bistué Millón et al. · PLoS Genetics · 2013 · 87 citations · Full text

Metabolic Disorder, Genetics, Glycobiology +17

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 · 73 citations · Full text

Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients

Hana Pavlú-Pereira, Maria João Silva, Cristina Florindo et al. · Orphanet Journal of Rare Diseases · 2020 · 43 citations · Full text