Stephanie Torre
Rouen, France
Last Updated: 09/26/2026
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Found 17 publications
Insights from the LysoNeo prospective cohort study to improve newborn screening of lysosomal diseases.
Journal: Communications medicine
Published: September 16, 2025
Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies.
Journal: European journal of neurology
Published: March 09, 2022
Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family.
Journal: International journal of molecular sciences
Published: October 16, 2021
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
Journal: Journal of medical genetics
Published: October 13, 2020
Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.
Journal: Journal of inherited metabolic disease
Published: June 24, 2020
Long term outcome of MPI-CDG patients on D-mannose therapy.
Journal: Journal of inherited metabolic disease
Published: April 26, 2020
Acute Respiratory Infection Unveiling CPT II Deficiency.
Journal: International journal of molecular sciences
Published: August 08, 2018
Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria.
Journal: International journal of molecular sciences
Published: October 20, 2017
Zellweger syndrome
Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
Published: December 09, 2016
A case of neonatal hypotonia
Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
Published: December 09, 2016
Management of diabetes patients during the year prior to initiation of dialysis in France.
Journal: Diabetes & metabolism
Published: September 19, 2016
Last Updated: 09/26/2026