Alberto Burlina

Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency

Louis‐Daniel Brun, Lock Hock Ngu, Wee Teik Keng et al. · Neurology · 2010 · 225 citations

Medicine, Neurology, Neuroscience +17

One Liver for Four Children: First Clinical Series of Liver Cell Transplantation for Severe Neonatal Urea Cycle Defects

Jochen Meyburg, Anibh M. Das, Friederike Hoerster et al. · Transplantation · 2009 · 161 citations

Medicine, Child Health, Pediatrics +15

Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes

Patricia Jumbo‐Lucioni, Kathryn B. Garber, John Kiel et al. · Journal of Inherited Metabolic Disease · 2012 · 88 citations · Full text

Medicine, Clinical Sciences, Endocrinology +4

Lactic acid levels in children perinatally treated with antiretroviral agents to prevent HIV transmission

Carlo Giaquinto, Antonia De Romeo, Vania Giacomet et al. · AIDS · 2001 · 52 citations · Full text

Life Sciences, Biochemistry, Child Health +17

Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure

María Andrea Desbats, Annalisa Vetro, Ivan Limongelli et al. · European Journal of Human Genetics · 2015 · 49 citations · Full text

Medicine, Pediatrics, Clinical Biochemistry +12