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Tatiana Amorim

APAE Salvador

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.

Maple Syrup Urine Disease Diagnosis in Brazilian Patients by Massive Parallel Sequencing

Number of pages: 18 Posted: 21 May 2024
Universidade Federal do Rio Grande do Sul (UFRGS), Universidade Federal do Rio Grande do Sul (UFRGS), Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Universidade Federal do Rio Grande do Sul (UFRGS), Universidade Federal do Rio Grande do Sul (UFRGS), affiliation not provided to SSRN, Universidade Federal do Rio Grande do Sul (UFRGS), affiliation not provided to SSRN, APAE Salvador, 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, Universidade Estadual do Ceará, Hospital Infantil Albert Sabin and Universidade Federal do Rio Grande do Sul (UFRGS)
Downloads 72 (875,328)

Abstract:

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Massive parallel sequencing, molecular diagnosis, maple syrup urine disease, BCKDHA, BCKDHB, DBT