Alessandro P. Burlina

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

Michèl A.A.P. Willemsen, Marcel M. Verbeek, Erik‐Jan Kamsteeg et al. · Brain · 2010 · 228 citations · Full text

Monogenic cerebral small‐vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology

Michelangelo Mancuso, Marcel Arnold, Anna Bersano et al. · European Journal of Neurology · 2020 · 178 citations · Full text

Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy

Alberto Burlina, Giulia Polo, Leonardo Salviati et al. · Journal of Inherited Metabolic Disease · 2017 · 170 citations

Guideline for the diagnosis and management of glutaryl‐CoA dehydrogenase deficiency (glutaric aciduria type I)

S. Kölker, E. Christensen, James V. Leonard et al. · Journal of Inherited Metabolic Disease · 2007 · 145 citations

Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS

Giulia Polo, Alessandro P. Burlina, Thilini B. Kolamunnage et al. · Clinical Chemistry and Laboratory Medicine (CCLM) · 2017 · 116 citations · Full text