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alberto burlina

University of Padova

SCHOLARLY PAPERS

2

DOWNLOADS

228

TOTAL CITATIONS

0

Scholarly Papers (2)

1.

Pilot Study of Newborn Screening for Six Lysosomal Diseases in Brazil

Number of pages: 19 Posted: 24 Mar 2023
Greenwood Genetic Center, APAE Salvador, APAE Salvador, Innovatox, Waters technologies do Brazil, Waters technologies do Brazil, Hospital de Clínicas de Porto Alegre (HCPA), Hospital de Clínicas de Porto Alegre (HCPA), Hospital de Clínicas de Porto Alegre (HCPA), Mayo Clinic, Hospital de Clínicas de Porto Alegre (HCPA), PerkinElmer, PerkinElmer, SA Pathology, University of Padova, University of Washington - Department of Biochemistry, University of Washington, University of Padova, University of Washington and Federal University of Rio Grande do Sul (UFRGS/PPGA)
Downloads 125 (576,708)

Abstract:

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newborn screening, tandem mass spectrometry, enzyme analysis, biomarkers, lysosomal storage diseases

2.

The Management of Methylmalonic Aciduria, Propionic Aciduria and Isovaleric Aciduria in Italy: Real-Life Experience with Carbaglu®

Number of pages: 19 Posted: 25 Feb 2022
University of Padova, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, University of Naples Federico II, affiliation not provided to SSRN, University of Turin, University of Florence - Meyer Children’s Hospital and affiliation not provided to SSRN
Downloads 103 (674,591)

Abstract:

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Organic acidurias, propionic acidemia, methylmalonic acidemia, isovaleric acidemia, hyperammonemia, carglumic acid