Benedicte Arnaud-Sudrie
Rouen, France
Last Updated: 09/26/2026
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Found 17 publications
Implementation of a "hypoglycemia kit" in a pediatric emergency room: A retrospective study during 2011-2019.
Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
Published: September 12, 2022
Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family.
Journal: International journal of molecular sciences
Published: October 16, 2021
An Atypical Case of Head Tremor and Extensive White Matter in an Adult Female Caused by 3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency.
Journal: Diagnostics (Basel, Switzerland)
Published: May 25, 2021
Large-scale screening of lipase acid deficiency in at risk population.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: February 26, 2021
NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation.
Journal: Life (Basel, Switzerland)
Published: February 14, 2021
A simple approach to create a common language, a necessary element for the development of a quality culture in a medical biology laboratory
Journal: Annales de biologie clinique
Published: February 10, 2021
Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel.
Journal: Diagnostics (Basel, Switzerland)
Published: January 26, 2021
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
Journal: Journal of medical genetics
Published: October 13, 2020
An Unusual Peak in a Common Clinical Presentation.
Journal: Clinical chemistry
Published: September 22, 2020
Acute Respiratory Infection Unveiling CPT II Deficiency.
Journal: International journal of molecular sciences
Published: August 08, 2018
Last Updated: 09/26/2026