Stéphanie Gobin - Concepedia

Concepedia

Author

Stéphanie Gobin

Hôpital Necker-Enfants Malades

Also Known As

S Gobin, S J Gobin, S J P GOBIN, S. Gobin, S. J. P. GOBIN, S.J.P. Gobin, Stephanie Gobin, Stéphanie GOBIN, Stéphanie Gobin

38

Publications

1.2K

Citations

18

H-Index

40

Concepts

All Affiliations

Hôpital Necker-Enfants Malades Université Paris Cité Inserm Assistance Publique – Hôpitaux de Paris Centre National de la Recherche Scientifique

SG

About

Stéphanie Gobin is an author at Hôpital Necker-Enfants Malades specializing in medicine, genetics, and biochemistry.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	8	8	397
2	Biochemistry	3	3	216
3	Health Sciences	2	2	129
4	Natural Sciences	1	1	53
5	Social Sciences	1	1	53

Stéphanie Gobin

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22

Publications

1.2K

Citations

17

H-Index

	Year	Citations
Defective <i>FA2H</i> leads to a novel form of neurodegeneration with brain iron accumulation (NBIA) Michael C. Kruer, Coro Paisán‐Ruíz, Nathalie Boddaert, Annals of Neurology	2010	231
Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood Wladimir Mauhin, Florence Habarou, Stéphanie Gobin, Orphanet Journal of Rare Diseases	2017	111
Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency Laure Thuillier, Hidayeth Rostane, Véronique Droin, Human Mutation Lcfa OxidationMetabolic DisorderGeneticsClinical PresentationHuman Polymorphism	2003	109
Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients Anaïs Brassier, Stéphanie Gobin, Jean Baptiste Arnoux, Orphanet Journal of Rare Diseases	2015	105
Functional and Structural Basis of Carnitine Palmitoyltransferase 1A Deficiency Stéphanie Gobin, Laure Thuillier, G. Jogl, Journal of Biological Chemistry	2003	81
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, European Journal of Human Genetics Fmr1 GeneMendelian DisorderGenetic DisorderGeneticsPsychiatric Genetics	2009	74
Molecular and Enzymatic Characterization of a Unique Carnitine Palmitoyltransferase 1A Mutation in the Hutterite Community Carina Prip‐Buus, Laure Thuillier, Nourredine Abadi, Molecular Genetics and Metabolism BiotransformationCellular EnzymologyBiochemistryBiochemical TaxonomyMedicine	2001	54
Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype? Giulia Barcia, Nicole Chémaly, Stéphanie Gobin, European Journal of Medical Genetics Neurobiology Of DiseaseNeurological DisorderNeuroanatomyGeneticsMedicine	2013	53
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, Human Genetics BiochemistryGenetic DisorderNatural SciencesGeneticsNovel Mutations	2002	53
Clinical and biological characterization of 20 patients with <scp>TANGO2</scp> deficiency indicates novel triggers of metabolic crises and no primary energetic defect Claire‐Marine Bérat, Sebastián Montealegre, Arnaud Wiedemann, Journal of Inherited Metabolic Disease	2020	41

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