Stephanie Gobin

Paris, France

Last Updated: 09/26/2026

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Found 12 publications

Circulatory response to exercise relative to oxygen uptake assessed in the follow-up of patients with fatty acid beta-oxidation disorders.

Circulatory response to exercise relative to oxygen uptake assessed in the follow-up of patients with fatty acid beta-oxidation disorders.

Journal: Journal of inherited metabolic disease

Published: August 05, 2024

FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation.

FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation.

Journal: Neurology. Genetics

Published: February 23, 2021

Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.

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

Diagnosis and phenotypic assessment of trimethylaminuria, and its treatment with riboflavin: 1H NMR spectroscopy and genetic testing.

Diagnosis and phenotypic assessment of trimethylaminuria, and its treatment with riboflavin: 1H NMR spectroscopy and genetic testing.

Journal: Orphanet journal of rare diseases

Published: June 29, 2018

Dilated Cardiomyopathy and Premature Ovarian Failure Unveiling Propionic Aciduria.

Dilated Cardiomyopathy and Premature Ovarian Failure Unveiling Propionic Aciduria.

Journal: Clinical chemistry

Published: September 08, 2017

Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles.

Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles.

Journal: Journal of inherited metabolic disease

Published: February 20, 2017

Autism spectrum disorders in propionic acidemia patients.

Autism spectrum disorders in propionic acidemia patients.

Journal: Journal of inherited metabolic disease

Published: November 18, 2016

Renal involvement in lysinuric protein intolerance: contribution of pathology to assessment of heterogeneity of renal lesions.

Renal involvement in lysinuric protein intolerance: contribution of pathology to assessment of heterogeneity of renal lesions.

Journal: Human pathology

Published: August 05, 2016

Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood.

Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood.

Journal: Orphanet journal of rare diseases

Published: July 22, 2016

Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients.

Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients.

Journal: Orphanet journal of rare diseases

Published: November 03, 2014

Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH.

Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH.

Journal: Clinical genetics

Published: July 03, 2012

Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?

Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?

Journal: European journal of medical genetics

Published: November 24, 2011

Showing 1-12 of 12

Last Updated: 09/26/2026