Cecile E. Acquaviva

Centre De Biologie Et Pathologie Est
Lyon, France

Last Updated: 09/26/2026

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Found 50 publications

Vitamin-Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy.

Vitamin-Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy.

Journal: Journal of inherited metabolic disease

Published: December 06, 2025

Correction: SMART stone multidisciplinary team (MDT) and patient care: recommendations for the adult high-risk kidney stone patient pathway.

Correction: SMART stone multidisciplinary team (MDT) and patient care: recommendations for the adult high-risk kidney stone patient pathway.

Journal: World journal of urology

Published: November 04, 2025

Incidental maternal glutaric aciduria type I detection through newborn screening: A case report.

Incidental maternal glutaric aciduria type I detection through newborn screening: A case report.

Journal: Molecular genetics and metabolism reports

Published: October 22, 2025

Increased awareness around an ultra-rare disease can improve diagnosis delays: the French example in primary hyperoxalurias.

Increased awareness around an ultra-rare disease can improve diagnosis delays: the French example in primary hyperoxalurias.

Journal: Orphanet journal of rare diseases

Published: October 01, 2025

Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases.

Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases.

Journal: Journal of inherited metabolic disease

Published: September 22, 2025

Optimizing Screening Performance for the Risk of Hyperoxaluria and Urolithiasis Using the Urinary Oxalate/Creatinine Ratio: A Retrospective Analysis.

Optimizing Screening Performance for the Risk of Hyperoxaluria and Urolithiasis Using the Urinary Oxalate/Creatinine Ratio: A Retrospective Analysis.

Journal: European urology open science

Published: March 05, 2025

SMART Stone Multidisciplinary Team (MDT) and patient care: recommendations for the adult high-risk kidney stone patient pathway.

SMART Stone Multidisciplinary Team (MDT) and patient care: recommendations for the adult high-risk kidney stone patient pathway.

Journal: World journal of urology

Published: February 14, 2025

Mitochondrial disorders are associated with morphological neuromuscular junction defects.

Mitochondrial disorders are associated with morphological neuromuscular junction defects.

Journal: Neuromuscular disorders : NMD

Published: August 11, 2024

Elastin turnover in Williams-Beuren and 7q11.23 microduplication syndromes.

Elastin turnover in Williams-Beuren and 7q11.23 microduplication syndromes.

Journal: European heart journal open

Published: January 10, 2024

Primary hyperoxaluria in adults and children: a nationwide cohort highlights a persistent diagnostic delay.

Primary hyperoxaluria in adults and children: a nationwide cohort highlights a persistent diagnostic delay.

Journal: Clinical kidney journal

Published: November 05, 2023

Recurrent familial case of early childhood sudden death: Complex post mortem genetic investigations.

Recurrent familial case of early childhood sudden death: Complex post mortem genetic investigations.

Journal: Forensic science international. Genetics

Published: July 20, 2023

Circulating Oxalate Levels in Short Bowel Syndrome as a Severity Marker of CKD.

Circulating Oxalate Levels in Short Bowel Syndrome as a Severity Marker of CKD.

Journal: Kidney international reports

Published: July 20, 2023

Showing 1-12 of 50

Last Updated: 09/26/2026