Tatiana Amorim
Salvador, BA, Brazil
Last Updated: 09/26/2026
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Found 20 publications
Neonatal screening for spinal muscular atrophy: Report of a multicenter study in Brazil.
Journal: Genetics and molecular biology
Published: August 06, 2025
Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing.
Journal: Molecular genetics and metabolism
Published: May 02, 2024
ELMO2 biallelic pathogenic variants in a patient with gingival hypertrophy and cherubism phenotype: Case report and molecular review.
Journal: American journal of medical genetics. Part A
Published: January 27, 2024
Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network.
Journal: Orphanet journal of rare diseases
Published: November 25, 2023
IRT/IRT as a newborn cystic fibrosis screening method: optimal cutoff points for a mixed population.
IRT/IRT as a newborn cystic fibrosis screening method: optimal cutoff points for a mixed population.
Journal: Cadernos de saude publica
Published: August 16, 2023
Pilot study of newborn screening for six lysosomal diseases in Brazil.
Journal: Molecular genetics and metabolism
Published: March 07, 2023
Five-year performance analysis of a cystic fibrosis newborn screening program in northeastern Brazil.
Journal: Jornal de pediatria
Published: January 17, 2022
Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives.
Journal: International journal of neonatal screening
Published: October 09, 2020
Is there an association between prostate-specific antigen and androgen levels in 46, XX patients with congenital adrenal hyperplasia?
Journal: Journal of pediatric urology
Published: June 24, 2020
METABOLIC CONTROL AND BODY COMPOSITION OF CHILDREN AND ADOLESCENTS WITH PHENYLKETONURIA.
Journal: Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo
Published: April 15, 2020
Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity.
Journal: Orphanet journal of rare diseases
Published: November 18, 2019
The sickle cell trait and end stage renal disease in Salvador, Brazil.
Journal: PloS one
Published: July 10, 2018
Last Updated: 09/26/2026