Laura Vilarinho

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

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

J.G. Loeber, Dimitris Platis, Rolf Zetterström et al. · International Journal of Neonatal Screening · 2021 · 221 citations · Full text

Identification of a Novel Mutation in the mtDNA ND5 Gene Associated with MELAS

Filippo M. Santorelli, Kurenai Tanji, Romana Kulikova et al. · Biochemical and Biophysical Research Communications · 1997 · 170 citations · Full text

Novel Mutation, Genome Instability, Mitochondrial Function +15

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

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Newborn screening and its relationship to the diagnosis and treatment of the disorder

Songya Pang, A. Campbell Clark, Eurico Camargo Neto et al. · Screening · 1993 · 161 citations

Developmental Anomaly, Adrenal Gland, Urology +9