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Roberto Giugliani

Federal University of Rio Grande do Sul (UFRGS/PPGA)

Brazil

SCHOLARLY PAPERS

2

DOWNLOADS

197

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.

Evaluation of Two Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Various Mucopolysaccharidoses and GM1 Gangliosidosis

Number of pages: 32 Posted: 21 Feb 2023
University of Washington, National MPS Society, National MPS Society, Cure GM1 Foundation, University of Washington, Greenwood Genetic Center, Federal University of Rio Grande do Sul (UFRGS/PPGA), SA Pathology - Genetics and Molecular Pathology and University of Washington
Downloads 72 (860,052)

Abstract:

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newborn screening, glycosaminoglycans, mucopolysaccharidosis, GM1 gangliosidosis, mass spectrometry, biochemical genetics