Donatella Gilio

Pisa, 56126, Italy

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 22 publications

Unraveling the natural history of lipodystrophy syndromes: insights from the prospective LD-Lync study.

Unraveling the natural history of lipodystrophy syndromes: insights from the prospective LD-Lync study.

Journal: Journal of the Endocrine Society

Published: February 24, 2026

Lipodystrophy look-alikes: navigating diagnostic overlap with endocrine diseases.

Lipodystrophy look-alikes: navigating diagnostic overlap with endocrine diseases.

Journal: European journal of endocrinology

Published: November 05, 2025

Case Report: Familial partial lipodystrophy, description of novel and ultrarare variants with distinct phenotypic spectrum.

Case Report: Familial partial lipodystrophy, description of novel and ultrarare variants with distinct phenotypic spectrum.

Journal: Frontiers in endocrinology

Published: October 15, 2025

Expansion of the Phenotypic Spectrum of MNGIE: Lipodystrophy and Metabolic Alterations Associated with a p.Arg393_Val400dup TYMP Variant.

Expansion of the Phenotypic Spectrum of MNGIE: Lipodystrophy and Metabolic Alterations Associated with a p.Arg393_Val400dup TYMP Variant.

Journal: International journal of molecular sciences

Published: August 12, 2025

Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip) Paris, France, 20-21 May 2025.

Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip) Paris, France, 20-21 May 2025.

Journal: Annales d'endocrinologie

Published: August 01, 2025

Clinical Guidance for Lipodystrophy Syndromes: From Diagnosis and Work-Up to Treatment.

Clinical Guidance for Lipodystrophy Syndromes: From Diagnosis and Work-Up to Treatment.

Journal: Current diabetes reports

Published: July 31, 2025

Lipodystrophy Syndromes: One Name but Many Diseases Highlighting the Importance of Adipose Tissue in Metabolism.

Lipodystrophy Syndromes: One Name but Many Diseases Highlighting the Importance of Adipose Tissue in Metabolism.

Journal: Current diabetes reports

Published: July 31, 2025

Altered lipid metabolism and inflammatory programs associate with adipocyte loss in familial partial lipodystrophy 2.

Altered lipid metabolism and inflammatory programs associate with adipocyte loss in familial partial lipodystrophy 2.

Journal: The Journal of clinical investigation

Published: July 24, 2025

Potential Impact of Parental Origin of Inheritance on the Clinical Presentation of Familial Partial Lipodystrophy Type 2 Syndrome.

Potential Impact of Parental Origin of Inheritance on the Clinical Presentation of Familial Partial Lipodystrophy Type 2 Syndrome.

Journal: Clinical endocrinology

Published: May 21, 2025

Effects of FGF21, soluble TGFBR2, and environmental temperature on metabolic dysfunction in lipodystrophic mice.

Effects of FGF21, soluble TGFBR2, and environmental temperature on metabolic dysfunction in lipodystrophic mice.

Journal: JCI insight

Published: April 22, 2025

EBF2 variant identified in a patient with atypical partial lipodystrophy causes adipose fibrosis and dysfunction.

EBF2 variant identified in a patient with atypical partial lipodystrophy causes adipose fibrosis and dysfunction.

Journal: The Journal of clinical investigation

Published: February 26, 2025

Changes After Leptin Administration in Partial Lipodystrophy and Factors Associated With Hepatic and Metabolic Response.

Changes After Leptin Administration in Partial Lipodystrophy and Factors Associated With Hepatic and Metabolic Response.

Journal: Journal of the Endocrine Society

Published: December 25, 2024

Showing 1-12 of 22

Last Updated: 09/26/2026