Margherita Ruoppolo

Naples, 80131, Italy

Last Updated: 09/26/2026

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Found 89 publications

Expanding the Mutational Spectrum of ACADVL: Integrative Characterization of the p.Ser72Phe Variant in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.

Expanding the Mutational Spectrum of ACADVL: Integrative Characterization of the p.Ser72Phe Variant in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.

Journal: Genes

Published: May 07, 2026

Effect of metformin on metabolomic and circulating miRNAs profile in type 2 diabetes mellitus patients: a pilot analysis of sex differences.

Effect of metformin on metabolomic and circulating miRNAs profile in type 2 diabetes mellitus patients: a pilot analysis of sex differences.

Journal: European journal of pharmacology

Published: October 08, 2025

Sex differences in the blood metabolome of extremely preterm infants: a pilot study on the impact of antibiotic therapy.

Sex differences in the blood metabolome of extremely preterm infants: a pilot study on the impact of antibiotic therapy.

Journal: Biology of sex differences

Published: October 06, 2025

Novel missense ALDH18A1 variant in a family with autosomal dominant spastic paraplegia.

Novel missense ALDH18A1 variant in a family with autosomal dominant spastic paraplegia.

Journal: Journal of neurology

Published: August 02, 2025

Variants in GSTZ1 Gene Underlying Maleylacetoacetate Isomerase Deficiency: Characterization of Two New Individuals and Literature Review.

Variants in GSTZ1 Gene Underlying Maleylacetoacetate Isomerase Deficiency: Characterization of Two New Individuals and Literature Review.

Journal: Genes

Published: July 21, 2025

A Deep Clinical and Biochemical Characterization of a Patient With Combined Malonic and Methylmalonic Aciduria (CMAMMA).

A Deep Clinical and Biochemical Characterization of a Patient With Combined Malonic and Methylmalonic Aciduria (CMAMMA).

Journal: JIMD reports

Published: June 28, 2025

Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) Newborn Screening in Italy: Five Years' Experience from a Nationwide Program.

Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) Newborn Screening in Italy: Five Years' Experience from a Nationwide Program.

Journal: International journal of neonatal screening

Published: June 27, 2025

Benefits and pitfalls in newborn screening for carnitine uptake deficiency: a 4-year single-center experience.

Benefits and pitfalls in newborn screening for carnitine uptake deficiency: a 4-year single-center experience.

Journal: Orphanet journal of rare diseases

Published: April 20, 2025

Multiomics approach provides insight into altered choline metabolism and liver injury in patients with glycogen storage disease type Ia.

Multiomics approach provides insight into altered choline metabolism and liver injury in patients with glycogen storage disease type Ia.

Journal: Scientific reports

Published: March 26, 2025

The Light and the Dark Side of Maternal PKU: Single-Centre Experience of Dietary Management and Emergency Treatment Protocol of Unplanned Pregnancies.

The Light and the Dark Side of Maternal PKU: Single-Centre Experience of Dietary Management and Emergency Treatment Protocol of Unplanned Pregnancies.

Journal: Nutrients

Published: March 01, 2025

Cross-Linking Mass Spectrometry to Capture Protein Network Dynamics of Cell Membranome.

Cross-Linking Mass Spectrometry to Capture Protein Network Dynamics of Cell Membranome.

Journal: Methods in molecular biology (Clifton, N.J.)

Published: December 23, 2024

Neuroglobin regulates autophagy through mTORC1/RAPTOR/ULK-1 pathway in human neuroblastoma cells.

Neuroglobin regulates autophagy through mTORC1/RAPTOR/ULK-1 pathway in human neuroblastoma cells.

Journal: Scientific reports

Published: November 27, 2024

Showing 1-12 of 89

Last Updated: 09/26/2026