Vassiliki Konstantopoulou

Vienna, 1090, Austria

Last Updated: 09/26/2026

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Found 50 publications

Newborn Screening Alone Cannot Prevent Most Cases of Severe Vitamin B12 Deficiency in the First Year of Life.

Newborn Screening Alone Cannot Prevent Most Cases of Severe Vitamin B12 Deficiency in the First Year of Life.

Journal: Nutrients

Published: October 27, 2025

A suspicion index tool to aid the diagnosis and treatment of ASMD.

A suspicion index tool to aid the diagnosis and treatment of ASMD.

Journal: Orphanet journal of rare diseases

Published: July 22, 2025

Correspondence on "Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)" by Smith et al.

Correspondence on "Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)" by Smith et al.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 16, 2025

Myo-Inositol Deficiency, Structural Brain Changes, and Cerebral Perfusion Alterations in Classic Galactosemia: Preliminary Insights From a Multiparametric MRI Study.

Myo-Inositol Deficiency, Structural Brain Changes, and Cerebral Perfusion Alterations in Classic Galactosemia: Preliminary Insights From a Multiparametric MRI Study.

Journal: Journal of inherited metabolic disease

Published: May 30, 2025

Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients.

Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients.

Journal: Journal of inherited metabolic disease

Published: January 03, 2025

Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.

Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.

Journal: American journal of human genetics

Published: September 13, 2024

The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear.

The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear.

Journal: International journal of neonatal screening

Published: May 12, 2024

Missense variants in the TRPM7 α-kinase domain are associated with recurrent pediatric acute liver failure.

Missense variants in the TRPM7 α-kinase domain are associated with recurrent pediatric acute liver failure.

Journal: Hepatology communications

Published: April 30, 2024

Poor adherence during adolescence is a risk factor for becoming lost-to-follow-up in patients with phenylketonuria.

Poor adherence during adolescence is a risk factor for becoming lost-to-follow-up in patients with phenylketonuria.

Journal: Molecular genetics and metabolism reports

Published: March 23, 2024

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.

Journal: Annals of neurology

Published: November 16, 2023

PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening.

PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening.

Journal: Metabolites

Published: July 14, 2023

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 05, 2023

Showing 1-12 of 50

Last Updated: 09/26/2026