Hugo Rocha

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

David McHugh, Cynthia A. Cameron, José E. Abdenur et al. · Genetics in Medicine · 2011 · 349 citations · Full text

Metabolic Syndrome, Newborn Screening, Metabolic Disorder +10

Enhanced interpretation of newborn screening results without analyte cutoff values

Gregg Marquardt, Robert J. Currier, David McHugh et al. · Genetics in Medicine · 2012 · 123 citations · Full text

Early Diagnosis, Newborn Screening, Neonatology +8

Four years of expanded newborn screening in Portugal with tandem mass spectrometry

Laura Vilarinho, Hugo Rocha, Cármen Sousa et al. · Journal of Inherited Metabolic Disease · 2010 · 93 citations

Outcome of three cases of untreated maternal glutaric aciduria type I

Paula Garcia, Esmeralda Martins, Luísa Diogo et al. · European Journal of Pediatrics · 2007 · 42 citations

Urology, Iga Glomerulonephritis, Gynecology +3

Maternal high-fat high-sucrose diet and gestational exercise modulate hepatic fat accumulation and liver mitochondrial respiratory capacity in mothers and male offspring

Jelena Stevanović, Jorge Beleza, Pedro Coxito et al. · Metabolism · 2021 · 42 citations · Full text