Cecile Pagan

Groupement Hospitalier Est, Centre De Biologie Et Pathologie Est
Bron, 69500, France

Last Updated: 09/26/2026

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Found 29 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

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

Age doesn't matter: Very late-onset Niemann-Pick type C disease presenting as a PSP Richardson syndrome mimic.

Age doesn't matter: Very late-onset Niemann-Pick type C disease presenting as a PSP Richardson syndrome mimic.

Journal: Parkinsonism & related disorders

Published: December 27, 2024

Acid sphingomyelinase deficiency: Laboratory diagnosis, genetic and epidemiologic aspects of a 50-year French cohort.

Acid sphingomyelinase deficiency: Laboratory diagnosis, genetic and epidemiologic aspects of a 50-year French cohort.

Journal: Molecular genetics and metabolism

Published: December 22, 2024

How to diagnose acid sphingomyelinase deficiency (ASMD) and Niemann-Pick disease type C from bone marrow and peripheral blood smears.

How to diagnose acid sphingomyelinase deficiency (ASMD) and Niemann-Pick disease type C from bone marrow and peripheral blood smears.

Journal: HemaSphere

Published: August 23, 2024

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

Primary mitochondrial disorders and mimics: Insights from a large French cohort.

Primary mitochondrial disorders and mimics: Insights from a large French cohort.

Journal: Annals of clinical and translational neurology

Published: February 26, 2024

Diagnostic challenge between a frequent polygenic hypocholesterolemia and an unusual Smith Lemli Opitz syndrome related to bi-allelic DHCR7 mutations.

Diagnostic challenge between a frequent polygenic hypocholesterolemia and an unusual Smith Lemli Opitz syndrome related to bi-allelic DHCR7 mutations.

Journal: Clinical chemistry and laboratory medicine

Published: February 01, 2024

Impact of IDO activation and alterations in the kynurenine pathway on hyperserotonemia, NAD+ production, and AhR activation in autism spectrum disorder.

Impact of IDO activation and alterations in the kynurenine pathway on hyperserotonemia, NAD+ production, and AhR activation in autism spectrum disorder.

Journal: Translational psychiatry

Published: April 21, 2023

Phenotype and molecular characterization of Wilson's disease in Morocco.

Phenotype and molecular characterization of Wilson's disease in Morocco.

Journal: Clinics and research in hepatology and gastroenterology

Published: August 01, 2022

Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts.

Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts.

Journal: Orphanet journal of rare diseases

Published: June 13, 2022

Corrigendum to "ATP7B variant spectrum in a French pediatric Wilson disease cohort" [Eur. J. Med. Genet. 64 (10) (October 2021) 104305].

Corrigendum to "ATP7B variant spectrum in a French pediatric Wilson disease cohort" [Eur. J. Med. Genet. 64 (10) (October 2021) 104305].

Journal: European journal of medical genetics

Published: February 20, 2022

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Last Updated: 09/26/2026