Cecile Bourdain-Acquaviva

Bron, France

Last Updated: 09/26/2026

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Found 50 publications

Multiplex MSMS measurement of lysosomal enzymes enables incidental diagnosis of acid sphingomyelinase deficiency in patients evaluated for Gaucher disease.

Multiplex MSMS measurement of lysosomal enzymes enables incidental diagnosis of acid sphingomyelinase deficiency in patients evaluated for Gaucher disease.

Journal: Molecular genetics and metabolism

Published: March 07, 2026

Plasma KL-6 reflects pulmonary severity and longitudinal response to enzyme replacement therapy in acid sphingomyelinase deficiency type B.

Plasma KL-6 reflects pulmonary severity and longitudinal response to enzyme replacement therapy in acid sphingomyelinase deficiency type B.

Journal: Molecular genetics and metabolism reports

Published: January 28, 2026

Primary hyperoxaluria(s): from trials to real-life data and pipeline therapies.

Primary hyperoxaluria(s): from trials to real-life data and pipeline therapies.

Journal: Kidney international

Published: July 29, 2025

Snacks and urinary oxalate: Which wins, almonds or chocolate?

Snacks and urinary oxalate: Which wins, almonds or chocolate?

Journal: The French journal of urology

Published: July 08, 2025

Administration of lumasiran in a child with infantile oxalosis undergoing chronic peritoneal dialysis: A case report

Administration of lumasiran in a child with infantile oxalosis undergoing chronic peritoneal dialysis: A case report

Journal: Nephrologie & therapeutique

Published: June 11, 2025

Fine-tuning circulating oxalate levels to improve transplant strategies in primary hyperoxaluria: what is the ideal threshold in pediatrics?

Fine-tuning circulating oxalate levels to improve transplant strategies in primary hyperoxaluria: what is the ideal threshold in pediatrics?

Journal: Nephrologie & therapeutique

Published: March 11, 2025

Real-Life Data of 2-Year Lumasiran Use in the DAILY-LUMA Cohort.

Real-Life Data of 2-Year Lumasiran Use in the DAILY-LUMA Cohort.

Journal: Kidney international reports

Published: November 30, 2024

Interpretation of results from high-throughput sequencing for genetic diseases: implementation of national homogenization in France

Interpretation of results from high-throughput sequencing for genetic diseases: implementation of national homogenization in France

Journal: Medecine sciences : M/S

Published: October 25, 2024

Adherence to delayed-release cysteamine in nephropathic cystinosis over time: data from the prospective CrYSTobs cohort study.

Adherence to delayed-release cysteamine in nephropathic cystinosis over time: data from the prospective CrYSTobs cohort study.

Journal: Pediatric nephrology (Berlin, Germany)

Published: October 02, 2024

Circulatory response to exercise relative to oxygen uptake assessed in the follow-up of patients with fatty acid beta-oxidation disorders.

Circulatory response to exercise relative to oxygen uptake assessed in the follow-up of patients with fatty acid beta-oxidation disorders.

Journal: Journal of inherited metabolic disease

Published: August 05, 2024

Unveiling atypical diagnoses: when whole-genome analysis performed for refractory infantile hypomagnesemia reveals primary hyperoxaluria.

Unveiling atypical diagnoses: when whole-genome analysis performed for refractory infantile hypomagnesemia reveals primary hyperoxaluria.

Journal: Pediatric nephrology (Berlin, Germany)

Published: May 01, 2024

Standardized emergency protocols to improve the management of patients with suspected or confirmed inherited metabolic disorders (IMDs): An initiative of the French IMDs Healthcare Network for Rare Diseases.

Standardized emergency protocols to improve the management of patients with suspected or confirmed inherited metabolic disorders (IMDs): An initiative of the French IMDs Healthcare Network for Rare Diseases.

Journal: Molecular genetics and metabolism

Published: April 29, 2024

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Last Updated: 09/26/2026