Ida D. Schwartz
Porto Alegre, RS, Brazil
Last Updated: 09/26/2026
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Found 201 publications
Global birth prevalence of galactosemia and the role of neonatal screening: A scoping review.
Journal: Molecular genetics and metabolism
Published: June 04, 2026
Re: "Disease or non-disease - about the identification of metabolic conditions that require no treatment".
Journal: Molecular genetics and metabolism
Published: April 26, 2026
Long-Chain Fatty Acid Oxidation Disorder Genes: A Comprehensive Genetic Database of LC-FAOD Variants, Genotypes, and Phenotypes.
Journal: Human mutation
Published: April 15, 2026
Body composition in adults with phenylketonuria: A 5 years follow-up study.
Journal: Molecular genetics and metabolism reports
Published: March 16, 2026
Corrigendum to "Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome" [Biochim. Biophys. Acta Mol. Basis Dis. 1872 (2026)/168184].
Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: March 12, 2026
Genetic landscape of phenylketonuria in Brazil.
Journal: Orphanet journal of rare diseases
Published: January 19, 2026
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
Reversible Metabolic and Liver Disease in Complex III Deficiency: Novel Variants Expand the Reported UQCRC2-Associated Phenotype.
Journal: Cells
Published: December 23, 2025
Chronic Granulomatous Disease: Clinical and Molecular Characterization of Brazilian Patients.
Journal: The journal of gene medicine
Published: October 09, 2025
Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome.
Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: October 07, 2025
Last Updated: 09/26/2026