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 · 234 citations · Full text

Medicine, Neurology, Neuroscience +14

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 · 188 citations · Full text

Medicine, Clinical Sciences, Neurology +13

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 · 176 citations

Life Sciences, Biochemistry, Pediatrics +16

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 · 146 citations

Life Sciences, Biochemistry, Pediatrics +6

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 · 121 citations · Full text

Life Sciences, Biochemistry, Molecular Medicine +17