Juliette Bouchereau

Paris, France

Last Updated: 09/26/2026

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Found 37 publications

Pediatric sleep-disordered breathing in Pompe disease in the era of enzyme replacement therapy: A retrospective cohort study.

Pediatric sleep-disordered breathing in Pompe disease in the era of enzyme replacement therapy: A retrospective cohort study.

Journal: Molecular genetics and metabolism

Published: April 08, 2026

Robotic versus Open Pancreatectomy for Focal Congenital Hyperinsulinism in Infants: A Single-Center Study.

Robotic versus Open Pancreatectomy for Focal Congenital Hyperinsulinism in Infants: A Single-Center Study.

Journal: European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie

Published: January 30, 2026

Focal congenital hyperinsulinism: spontaneous glycemic improvement before surgery.

Focal congenital hyperinsulinism: spontaneous glycemic improvement before surgery.

Journal: The Journal of clinical endocrinology and metabolism

Published: January 22, 2026

Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study.

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

Long Term Follow-Up After Transplantation in Propionic Acidemia: A Retrospective French Pediatric and Adult Cohort Study.

Long Term Follow-Up After Transplantation in Propionic Acidemia: A Retrospective French Pediatric and Adult Cohort Study.

Journal: Journal of inherited metabolic disease

Published: January 14, 2026

Cluster of Severe Arginase 1 Deficiency in the Comoros: Clinical, Neuroimaging, and Molecular Features in 17 Patients From Mayotte Compared With 10 From Paris.

Cluster of Severe Arginase 1 Deficiency in the Comoros: Clinical, Neuroimaging, and Molecular Features in 17 Patients From Mayotte Compared With 10 From Paris.

Journal: Journal of inherited metabolic disease

Published: October 07, 2025

Cluster of Severe Arginase 1 Deficiency in the Comoros: Clinical, Neuroimaging, and Molecular Features in 17 Patients From Mayotte Compared With 10 From Paris.

Cluster of Severe Arginase 1 Deficiency in the Comoros: Clinical, Neuroimaging, and Molecular Features in 17 Patients From Mayotte Compared With 10 From Paris.

Journal: Journal of inherited metabolic disease

Published: October 07, 2025

Acute Neurological Complications After Transplantation in Methylmalonic Acidemia: A 35-Patient French Cohort.

Acute Neurological Complications After Transplantation in Methylmalonic Acidemia: A 35-Patient French Cohort.

Journal: Journal of inherited metabolic disease

Published: September 29, 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

Nutritional Management in Severe Methylmalonic and Propionic Acidemias: How Much Medical Food Is Too Much?

Nutritional Management in Severe Methylmalonic and Propionic Acidemias: How Much Medical Food Is Too Much?

Journal: Journal of inherited metabolic disease

Published: August 01, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

Showing 1-12 of 37

Last Updated: 09/26/2026