A prospective natural history study for GM1 and GM2: 24-month data from the PRONTO study
Roberto Giugliani, Andreas Hahn, Paul R. Harmatz, Bénédicte Héron et autres
0 citationsMolecular Genetics and Metabolism
Aurélie Bourchany
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16Publications signalées
144Citations signalées
0Affiliations récentes
Domaines associés
Glycosylation and Glycoproteins ResearchGalectins and Cancer BiologyLysosomal Storage Disorders ResearchGenetic factors in colorectal cancerEsophageal and GI Pathology
Publications récentes
Gangliosidoses: Understanding disease evolution in GM1 and GM2
Roberto Giugliani, Paul Harmatz, Bénédicte Héron, Andreas Hahn et autres
0 citationsMolecular Genetics and Metabolism
Application of a natural history study on an investigational drug clinical development
Roberto Giugliani, Daniel Almeida do Valle, Bénédicte Héron, Paul Harmatz et autres
0 citationsMolecular Genetics and Metabolism
A natural history study of late-infantile and juvenile GM1 and GM2 gangliosidoses (PRONTO): Patients' and caregivers' assessments
Roberto Giugliani, Paul Harmatz, Bénédicte Héron, Marc C. Patterson et autres
0 citationsMolecular Genetics and Metabolism
A natural history study of late-infantile and juvenile GM1 and GM2 gangliosidoses (PRONTO): Baseline clinical data
Roberto Giugliani, Paul Harmatz, Bénédicte Héron, Marc C. Patterson et autres
0 citationsMolecular Genetics and Metabolism
A natural history study of late-infantile and juvenile GM1 and GM2 gangliosidosis (PRONTO): Evaluation of different assessments
Roberto Giugliani, Paul Harmatz, Bénédicte Héron, Marc C. Patterson et autres
0 citationsMolecular Genetics and Metabolism
Nutrición enteral
Aurélie Bourchany, M. Gorce, A Breton, Emmanuel Mas
0 citationsEMC - Pediatría
[Infant gastroesophageal reflux disease: physiological or pathological ?]
Aurélie Bourchany, Emmanuel Mas
0 citationsPubMed
Optimization of biologics to reduce treatment failure in inflammatory bowel diseases
Aurélie Bourchany, C. Gilletta de Saint-Joseph, Anne Breton, Frédérick Barreau et autres
9 citationsCurrent Opinion in Pharmacology
DOZ047.22: FEED-EASY: feeding disorders in children with esophageal atresia study
Aurélie Pham, E. Dugelay, Arnaud Bonnard, Thomas Gelas et autres
1 citationDiseases of the Esophagus
Description Osteo-Oto-Hepato-Enteric (O2HE) syndrome, a new recessive autosomal syndrome secondary to loss of function mutations in the UNC45A gene
Laurence Faivre, Clothilde Estève, Ludmila Francescatto, Perciliz L. Tan et autres
1 citationHAL AMU
Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility
Clothilde Estève, Ludmila Francescatto, Perciliz L. Tan, Aurélie Bourchany et autres
69 citationsThe American Journal of Human Genetics
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