Patrícia Janeiro

The natural history of classic galactosemia: lessons from the GalNet registry

M. Estela Rubio‐Gozalbo, Minela Haskovic, Annet M. Bosch et al. · Orphanet Journal of Rare Diseases · 2019 · 141 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

NGLY1 deficiency—A rare congenital disorder of deglycosylation

Patrícia Pinto, Catarina Machado, Patrícia Janeiro et al. · JIMD Reports · 2020 · 36 citations · Full text

Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era

Patrícia Janeiro, Rita Jotta, Ruben Ramos et al. · European Journal of Pediatrics · 2019 · 21 citations

Obesity, Metabolic Syndrome, Nutrition +11

Phenylalanine hydroxylase deficiency: Molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients

Isabel Rivera, Dina Mendes, Ângela Afonso et al. · Molecular Genetics and Metabolism · 2011 · 19 citations

Molecular Epidemiology, Medicine, Inherited Metabolic Disease +6