Magali Pettazzoni

Bron, France

Last Updated: 09/26/2026

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Found 37 publications

Unmasking Mucopolysaccharidosis Type I in a Patient With Wolf-Hirschhorn Syndrome: Diagnostic Overshadowing.

Unmasking Mucopolysaccharidosis Type I in a Patient With Wolf-Hirschhorn Syndrome: Diagnostic Overshadowing.

Journal: JIMD reports

Published: April 29, 2026

Maternal serum markers profiles for Down syndrome : review of comments and actionable recommendations.

Maternal serum markers profiles for Down syndrome : review of comments and actionable recommendations.

Journal: Gynecologie, obstetrique, fertilite & senologie

Published: March 31, 2026

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

Increased intervals in enzyme replacement therapy for stable type 1 Gaucher disease: A non-inferiority sequential trial emulation.

Increased intervals in enzyme replacement therapy for stable type 1 Gaucher disease: A non-inferiority sequential trial emulation.

Journal: Journal of internal medicine

Published: February 28, 2026

Sertraline Treatment Can Mimic Niemann-Pick Type C Biomarker Profile: A Diagnostic Pitfall.

Sertraline Treatment Can Mimic Niemann-Pick Type C Biomarker Profile: A Diagnostic Pitfall.

Journal: Annals of clinical and translational neurology

Published: February 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

-Impact of first-trimester preeclampsia screening on perinatal and maternal morbidity: the RANSPRE open multicenter randomized trial.

-Impact of first-trimester preeclampsia screening on perinatal and maternal morbidity: the RANSPRE open multicenter randomized trial.

Journal: BMC pregnancy and childbirth

Published: November 29, 2025

Lysosomal Storage Disorders.

Lysosomal Storage Disorders.

Journal: Seminars in respiratory and critical care medicine

Published: October 03, 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

Clinical outcomes of exclusive enzyme therapy (laronidase) in a cohort of patients with mucopolysaccharidosis type I.

Clinical outcomes of exclusive enzyme therapy (laronidase) in a cohort of patients with mucopolysaccharidosis type I.

Journal: Orphanet journal of rare diseases

Published: August 20, 2025

French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher disease.

French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher disease.

Journal: Orphanet journal of rare diseases

Published: March 25, 2025

Epidemiology of Gaucher Disease in France: Trends in Incidence, Mortality, Management, and Complications Over Three Decades.

Epidemiology of Gaucher Disease in France: Trends in Incidence, Mortality, Management, and Complications Over Three Decades.

Journal: Journal of inherited metabolic disease

Published: January 30, 2025

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Last Updated: 09/26/2026