Flavia B. Piazzon

Sao Paulo, SP, Brazil

Last Updated: 09/26/2026

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Found 25 publications

Genomic newborn screening for actionable, sight-threatening eye diseases.

Genomic newborn screening for actionable, sight-threatening eye diseases.

Journal: Canadian journal of ophthalmology. Journal canadien d'ophtalmologie

Published: March 31, 2026

Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study.

Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study.

Journal: Journal of inherited metabolic disease

Published: January 16, 2026

Analytical Validation of a Genomic Newborn Screening Workflow.

Analytical Validation of a Genomic Newborn Screening Workflow.

Journal: International journal of neonatal screening

Published: July 16, 2025

Genetic Newborn Screening for Retinoblastoma: A Belgian Initiative Baby Detect.

Genetic Newborn Screening for Retinoblastoma: A Belgian Initiative Baby Detect.

Journal: International ophthalmology clinics

Published: May 16, 2025

Population-based, first-tier genomic newborn screening in the maternity ward.

Population-based, first-tier genomic newborn screening in the maternity ward.

Journal: Nature medicine

Published: July 22, 2024

Feasibility and Acceptability of a Newborn Screening Program Using Targeted Next-Generation Sequencing in One Maternity Hospital in Southern Belgium.

Feasibility and Acceptability of a Newborn Screening Program Using Targeted Next-Generation Sequencing in One Maternity Hospital in Southern Belgium.

Journal: Children (Basel, Switzerland)

Published: June 20, 2024

Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability.

Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability.

Journal: Neurology. Clinical practice

Published: June 01, 2023

Influence of blood phenylalanine level variations on the development of executive functions and social cognition in children with phenylketonuria.

Influence of blood phenylalanine level variations on the development of executive functions and social cognition in children with phenylketonuria.

Journal: Jornal de pediatria

Published: November 23, 2022

Allan-Herndon-Dudley syndrome in a female patient and related mechanisms.

Allan-Herndon-Dudley syndrome in a female patient and related mechanisms.

Journal: Molecular genetics and metabolism reports

Published: March 17, 2022

CEDNIK syndrome in a Brazilian patient with compound heterozygous pathogenic variants.

CEDNIK syndrome in a Brazilian patient with compound heterozygous pathogenic variants.

Journal: European journal of medical genetics

Published: June 17, 2021

Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.

Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.

Journal: Journal of inherited metabolic disease

Published: August 14, 2020

Electrical storm treated successfully in a patient with TANGO2 gene mutation and long QT syndrome: A case report.

Electrical storm treated successfully in a patient with TANGO2 gene mutation and long QT syndrome: A case report.

Journal: HeartRhythm case reports

Published: May 29, 2020

Showing 1-12 of 25

Last Updated: 09/26/2026