Helena Fonseca

Porto, 4000053, Portugal

Last Updated: 09/26/2026

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Found 8 publications

Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS.

Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS.

Journal: International journal of neonatal screening

Published: January 26, 2024

Pilot Study on Newborn Screening for Spinal Muscular Atrophy.

Pilot Study on Newborn Screening for Spinal Muscular Atrophy.

Journal: Endocrine, metabolic & immune disorders drug targets

Published: July 13, 2023

Portuguese Neonatal Screening Programme: A Retrospective Cohort Study of 18 Years of MS/MS.

Portuguese Neonatal Screening Programme: A Retrospective Cohort Study of 18 Years of MS/MS.

Journal: Endocrine, metabolic & immune disorders drug targets

Published: July 12, 2023

Role of RNA in Molecular Diagnosis of MADD Patients.

Role of RNA in Molecular Diagnosis of MADD Patients.

Journal: Biomedicines

Published: March 31, 2021

Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.

Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.

Journal: Molecular genetics & genomic medicine

Published: August 05, 2020

Molecular picture of cobalamin C/D defects before and after newborn screening era.

Molecular picture of cobalamin C/D defects before and after newborn screening era.

Journal: Journal of medical screening

Published: June 03, 2016

3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.

3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.

Journal: Gene

Published: April 26, 2016

Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula.

Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula.

Journal: JIMD reports

Published: August 12, 2014

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Last Updated: 09/26/2026