about
Quality of Life (QoL) assessment in a cohort of patients with phenylketonuria.Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype.Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria.High level of oxysterols in neonatal cholestasis: a pitfall in analysis of biochemical markers for Niemann-Pick type C disease.Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS.Clinical, biochemical and molecular characterization of prosaposin deficiency.Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.Pivotal role of plasmacytoid dendritic cells in inflammation and NK-cell responses after TLR9 triggering in mice.N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer RegionNewborn screening in mucopolysaccharidosesCorrection to: Newborn screening in mucopolysaccharidoses.Living with phenylketonuria in adulthood: The PKU ATTITUDE studyPlasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative studyThe combined use of enzyme activity and metabolite assays as a strategy for newborn screening of mucopolysaccharidosis type I
P50
Q34694827-377A067A-AE20-440F-A686-AF29A01B03C5Q35795421-8A5B0A75-FF36-494A-B336-1078A9ABC460Q39526121-4C239757-AE12-4040-944D-93B4E46D057DQ40229530-FA64DC7C-909C-40CF-B5DF-A85E3D98E1FFQ48108072-A2C1A75F-4A27-4D24-9FD3-C89BB4996C50Q48937170-7A69088B-706D-4D06-9C5D-641C340CF3DAQ49977306-10DC3B04-8142-4DC2-BB6A-7DC62C7F1E2CQ54336023-9E840A77-047F-40BA-94CE-8795AA2A2DC7Q58603802-34432686-7BDF-462D-A07F-D32558E8FB2BQ59340089-050FECA6-904C-4756-9D76-7092FF98564CQ64963820-C2AD4C1E-EB5E-4FE7-B786-6CCED3E04D4CQ90702056-B509421C-40FA-4A7F-9B78-37A9DAB21139Q92039000-307B1964-777F-4D70-B6DD-3D199D945B60Q95306260-B2755664-214D-4D55-8FF9-6B14A2028147
P50
description
investigador
@es
researcher
@en
wetenschapper
@nl
name
Giulia Polo
@en
Giulia Polo
@nl
type
label
Giulia Polo
@en
Giulia Polo
@nl
prefLabel
Giulia Polo
@en
Giulia Polo
@nl
P31
P496
0000-0003-3157-2979