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Bénédicte Sudrié‐Arnaud

Observed names: B. Sudrié-Arnaud, Benedicte Sudrié-Arnaud, Bénédicte Sudrié-Arnaud
ORCID: 0000-0001-9793-988X
Observed ORCID: 0000-0001-9793-988X
OpenAlex ID: A5070325727
Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation
2018 · Bénédicte Sudrié-Arnaud, Florent Marguet, et al. · Clinica Chimica Acta · 42
Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large‐scale rearrangements and splicing variants
2017 · Pascaline Gaildrat, Said Lebbah, et al. · Molecular Genetics & Genomic Medicine · 34
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NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation
2021 · Ivana Dabaj, Bénédicte Sudrié-Arnaud, et al. · Life · 26
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Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria
2017 · Lenaig Abily-Donval, Stéphanie Torre, et al. · International Journal of Molecular Sciences · 18
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Large-scale screening of lipase acid deficiency in at risk population
2021 · Abdellah Tebani, Bénédicte Sudrié-Arnaud, et al. · Clinica Chimica Acta · 15
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Thrombin generation test as a marker for high risk venous thrombosis pregnancies
2017 · Bérangère S. Joly, Bénédicte Sudrié-Arnaud, et al. · Journal of Thrombosis and Thrombolysis · 15
Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family
2021 · Sarah Snanoudj, Stéphanie Torre, et al. · International Journal of Molecular Sciences · 8
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Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel
2021 · Bénédicte Sudrié-Arnaud, Sarah Snanoudj, et al. · Diagnostics · 8
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Dilated Cardiomyopathy and Premature Ovarian Failure Unveiling Propionic Aciduria
2018 · Sarah Grotto, Bénédicte Sudrié-Arnaud, et al. · Clinical Chemistry · 8
An Atypical Case of Head Tremor and Extensive White Matter in an Adult Female Caused by 3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency
2021 · Nassim Boutouchent, Julie Bourilhon, et al. · Diagnostics · 6
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Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency
2021 · Abdellah Tebani, Bénédicte Sudrié-Arnaud, et al. · Journal of Medical Genetics · 5
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Acute Respiratory Infection Unveiling CPT II Deficiency
2018 · Nicolas Blah, Bénédicte Sudrié-Arnaud, et al. · International Journal of Molecular Sciences · 5
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Neurological damage from recreational nitrous oxide use: Two distinct electroclinical profiles in a retrospective cohort
2025 · F. Boulin, A.-L. Bédat-Millet, et al. · Revue Neurologique · 3
An Atypical Case of Congenital Erythropoietic Porphyria
2021 · Bénédicte Sudrié-Arnaud, Marine Legendre, et al. · Genes · 2
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A simple approach to create a common language, a necessary element for the development of a quality culture in a medical biology laboratory
2021 · Henri Daniel Lathro, Benedicte Sudrié-Arnaud, et al. · Annales de biologie clinique · 1
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Implementation of a “hypoglycemia kit” in a pediatric emergency room: A retrospective study during 2011–2019
2023 · Faustine Dulion, Franklin Ducatez, et al. · Archives de Pédiatrie
An Unusual Peak in a Common Clinical Presentation
2021 · Bénédicte Sudrié-Arnaud, Sarah Snanoudj, et al. · Clinical Chemistry
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Next generation sequencing sheds light on inherited metabolic diseases in nonimmune hydrops fetalis investigations
2019 · Soumeya Bekri, Bénédicte Sudrié-Arnaud, et al. · Molecular Genetics and Metabolism
Development, analytical validation and implementation of a next generation sequencing panel to assess lysosomal diseases
2017 · Soumeya Bekri, Bénédicte Sudrié-Arnaud, et al. · Molecular Genetics and Metabolism
Works count: 19
Citation count: 196
H-index: 8
I10-index: 6
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