Detalhe da pesquisa
1.
Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl.
Genet Mol Biol
; 41(2): 379-385, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-29767664
2.
The proteome of cblC defect: in vivo elucidation of altered cellular pathways in humans.
J Inherit Metab Dis
; 38(5): 969-79, 2015 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-25585586
3.
The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach.
J Inherit Metab Dis
; 33 Suppl 3: S91-4, 2010 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-20157782
4.
LC-MS/MS method for simultaneous quantification of heparan sulfate and dermatan sulfate in urine by butanolysis derivatization.
Clin Chim Acta
; 488: 98-103, 2019 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-30395869
5.
Development of a fast LC-MS/MS protocol for combined measurement of six LSDs on dried blood spot in a newborn screening program.
J Pharm Biomed Anal
; 165: 135-140, 2019 Feb 20.
Artigo
Inglês
| MEDLINE | ID: mdl-30530130
6.
Data in support for the measurement of heparan sulfate and dermatan sulfate by LC-MS/MS analysis.
Data Brief
; 21: 2398-2404, 2018 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-30547065
7.
"Classical organic acidurias": diagnosis and pathogenesis.
Clin Exp Med
; 17(3): 305-323, 2017 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-27613073
8.
Mass Spectrometry-Based Metabolomic and Proteomic Strategies in Organic Acidemias.
Biomed Res Int
; 2016: 9210408, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-27403441
9.
The proteome of methylmalonic acidemia (MMA): the elucidation of altered pathways in patient livers.
Mol Biosyst
; 12(2): 566-74, 2016 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-26672496
10.
The complete 12 Mb genome and transcriptome of Nonomuraea gerenzanensis with new insights into its duplicated "magic" RNA polymerase.
Sci Rep
; 6(1): 18, 2016 Dec 21.
Artigo
Inglês
| MEDLINE | ID: mdl-28442708
11.
Female and male human babies have distinct blood metabolomic patterns.
Mol Biosyst
; 11(9): 2483-92, 2015 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-26140445
12.
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
Mol Biosyst
; 11(6): 1525-35, 2015 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-25689098
13.
Serum metabolomic profiles suggest influence of sex and oral contraceptive use.
Am J Transl Res
; 6(5): 614-24, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-25360225
14.
Maternal vitamin B12 deficiency detected in expanded newborn screening.
Clin Biochem
; 47(18): 312-7, 2014 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-25204964
15.
Optimization of an HPLC method for phenylalanine and tyrosine quantization in dried blood spot.
Clin Biochem
; 46(18): 1892-5, 2013 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-24028903
16.
Child neurology: Recurrent rhabdomyolysis due to a fatty acid oxidation disorder.
Neurology
; 82(1): e1-4, 2014 Jan 07.
Artigo
Inglês
| MEDLINE | ID: mdl-24379101