Mauro Naturale
Padova, Italy
Last Updated: 09/26/2026
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Found 9 publications
Case Report: Early Treatment With Chenodeoxycholic Acid in Cerebrotendinous Xanthomatosis Presenting as Neonatal Cholestasis.
Journal: Frontiers in pediatrics
Published: April 16, 2020
Quantification of Underivatized Amino Acids on Dry Blood Spot, Plasma, and Urine by HPLC-ESI-MS/MS.
Journal: Methods in molecular biology (Clifton, N.J.)
Published: July 27, 2019
Atypical clinical presentation and successful treatment with oral cholic acid of a child with defective bile acid synthesis due to a novel mutation in the HSD3B7 gene.
Journal: Pediatric reports
Published: June 15, 2017
Improved synthesis of glycine, taurine and sulfate conjugated bile acids as reference compounds and internal standards for ESI-MS/MS urinary profiling of inborn errors of bile acid synthesis.
Journal: Chemistry and physics of lipids
Published: October 10, 2016
Asymmetric dimethylarginine and related metabolites in exhaled breath condensate of children with cystic fibrosis.
Journal: The clinical respiratory journal
Published: November 18, 2015
A rapid UPLC-MS/MS method for simultaneous separation of 48 acylcarnitines in dried blood spots and plasma useful as a second-tier test for expanded newborn screening.
Journal: Analytical and bioanalytical chemistry
Published: March 27, 2012
Quantification of underivatised amino acids on dry blood spot, plasma, and urine by HPLC-ESI-MS/MS.
Journal: Methods in molecular biology (Clifton, N.J.)
Published: November 30, 2011
Showing 1-9 of 9
Last Updated: 09/26/2026