Publications by authors named "Stephanie Gobin"

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Circulatory response to exercise relative to oxygen uptake assessed in the follow-up of patients with fatty acid beta-oxidation disorders.
Apolline Imbard, Hortense de Calbiac, Edouard Le Guillou, Pascal Laforêt, Manuel Schiff, Stéphanie Gobin

J Inherit Metab Dis· January 2025

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FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation.
Sebastian Montealegre, Elise Lebigot, Hugo Debruge, Norma Romero, Bénédicte Héron, Stéphanie Gobin

Neurol Genet· February 2022

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Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.
Claire-Marine Bérat, Sebastian Montealegre, Arnaud Wiedemann, Malou Le Corronc Nuzum, Amélie Blondel, Stéphanie Gobin

J Inherit Metab Dis· March 2021

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Diagnosis and phenotypic assessment of trimethylaminuria, and its treatment with riboflavin: H NMR spectroscopy and genetic testing.
Nadia Bouchemal, Lisa Ouss, Anaïs Brassier, Valérie Barbier, Stéphanie Gobin

Orphanet J Rare Dis· September 2019

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Autism spectrum disorders in propionic acidemia patients.
Caroline Dejean de la Bâtie, Valérie Barbier, Célina Roda, Anaïs Brassier, Jean-Baptiste Arnoux, Stéphanie Gobin

J Inherit Metab Dis· July 2018

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Dilated Cardiomyopathy and Premature Ovarian Failure Unveiling Propionic Aciduria.
Sarah Grotto, Bénédicte Sudrié-Arnaud, Valérie Drouin-Garraud, Catherine Nafeh-Bizet, Bernadette Chadefaux-Vekemans, Stéphanie Gobin

Clin Chem· April 2018

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Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles.
Alice Kuster, Jean-Baptiste Arnoux, Magalie Barth, Delphine Lamireau, Nada Houcinat, Stéphanie Gobin

J Inherit Metab Dis· January 2018

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Renal involvement in lysinuric protein intolerance: contribution of pathology to assessment of heterogeneity of renal lesions.
Emmanuel Estève, Pauline Krug, Aurélie Hummel, Jean-Baptiste Arnoux, Olivia Boyer, Stéphanie Gobin

Hum Pathol· April 2017

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Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood.
Wladimir Mauhin, Florence Habarou, Stéphanie Gobin, Aude Servais, Anaïs Brassier

Orphanet J Rare Dis· January 2017

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Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients.
Anais Brassier, Stephanie Gobin, Jean Baptiste Arnoux, Vassili Valayannopoulos, Florence Habarou

Orphanet J Rare Dis· May 2015

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Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?
Giulia Barcia, Nicole Chemaly, Stephanie Gobin, Mathieu Milh, Patrick Van Bogaert

Eur J Med Genet· January 2014

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Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy.
Magalie Barth, Chris Ottolenghi, Laurence Hubert, Dominique Chrétien, Valérie Serre, Stéphanie Gobin

J Inherit Metab Dis· December 2010

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Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).
Michael C Kruer, Coro Paisán-Ruiz, Nathalie Boddaert, Moon Y Yoon, Hiroko Hama, Stephanie Gobin

Ann Neurol· November 2010

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Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies.
Alix de Becdelièvre, Catherine Costa, Annick LeFloch, Marie Legendre, Jean-Marie Jouannic, Stéphanie Gobin

Eur J Hum Genet· October 2010

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Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition.
Marlène Rio, Valérie Malan, Sarah Boissel, Annick Toutain, Ghislaine Royer, Stéphanie Gobin

Eur J Hum Genet· March 2010

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[Therapeutic effect of human mesenchymal stem cells in skin after radiation damage].
Morad Bensidhoum, Stéphanie Gobin, Alain Chapel, Gilles Lemaitre, Stéphan Bouet

J Soc Biol· August 2006

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Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects.
Jean-Paul Bonnefont, Fatima Djouadi, Carina Prip-Buus, Stephanie Gobin, Arnold Munnich

Mol Aspects Med· October 2005

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Demonstration of N- and C-terminal domain intramolecular interactions in rat liver carnitine palmitoyltransferase 1 that determine its degree of malonyl-CoA sensitivity.
Audrey Faye, Karen Borthwick, Catherine Esnous, Nigel T Price, Stéphanie Gobin

Biochem J· April 2005

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Functional and structural basis of carnitine palmitoyltransferase 1A deficiency.
Stéphanie Gobin, Laure Thuillier, Gerwald Jogl, Audrey Faye, Liang Tong

J Biol Chem· December 2003

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Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency.
Laure Thuillier, Hidayeth Rostane, Veronique Droin, France Demaugre, Michèle Brivet, Stéphanie Gobin

Hum Mutat· May 2003

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Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.
Stéphanie Gobin, Jean-Paul Bonnefont, Carina Prip-Buus, Claude Mugnier, Magali Ferrec

Hum Genet· August 2002

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