Concepedia
Statistics
Publications
22
Citations
1.2K
H-Index
17
Active since
1989
Affiliations
Hôpital Necker-Enfants Malades(Current)
Université Paris Cité
Inserm
Assistance Publique – Hôpitaux de Paris
Centre National de la Recherche Scientifique
Stéphanie Gobin is an author at Hôpital Necker-Enfants Malades specializing in life sciences, biochemistry, and genetics.
Publications per year
1989–2020
Defective <i>FA2H</i> leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)
Michael C. Kruer, Coro Paisán-Ruı́z, Nathalie Boddaert et al. · Annals of Neurology · 2010 · 233 citations
Life Sciences, Genetics, Neurology +17
Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood
Wladimir Mauhin, Florence Habarou, Stéphanie Gobin et al. · Orphanet Journal of Rare Diseases · 2017 · 113 citations · Full text
Life Sciences, Internal Medicine, Pediatrics +9
Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients
Anaïs Brassier, Stéphanie Gobin, Jean Baptiste Arnoux et al. · Orphanet Journal of Rare Diseases · 2015 · 109 citations · Full text
Life Sciences, Pediatrics, Developmental Pediatrics +13
Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency
Laure Thuillier, Hidayeth Rostane, Véronique Droin et al. · Human Mutation · 2003 · 109 citations
Life Sciences, Genetics, Molecular Genetics +17
Functional and Structural Basis of Carnitine Palmitoyltransferase 1A Deficiency
Stéphanie Gobin, Laure Thuillier, G. Jogl et al. · Journal of Biological Chemistry · 2003 · 83 citations · Full text
Life Sciences, Biochemistry, Genetics +14
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