V
Véronique Abadie
Researcher at University of Paris
Publications - 33
Citations - 1040
Véronique Abadie is an academic researcher from University of Paris. The author has contributed to research in topics: Phenylalanine hydroxylase & Glossoptosis. The author has an hindex of 17, co-authored 33 publications receiving 899 citations. Previous affiliations of Véronique Abadie include Paris Descartes University & Necker-Enfants Malades Hospital.
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Journal ArticleDOI
Best Practices for the Diagnosis and Evaluation of Infants With Robin Sequence: A Clinical Consensus Report
Corstiaan C. Breugem,Kelly N. Evans,Christian F. Poets,Sunjay Suri,Arnaud Picard,Charles Filip,Emma C. Paes,Felicity V. Mehendale,Howard M. Saal,Hanneke Basart,Jyotsna Murthy,Koen F.M. Joosten,Lucienne Speleman,Marcus V.M. Collares,Marie Jos H. Van Den Boogaard,Marvick S.M. Muradin,Maud Els Marie Andersson,Mikihiko Kogo,Peter G. Farlie,Peter Don Griot,Peter A. Mossey,Rona Slator,Véronique Abadie,Paul Hong +23 more
TL;DR: An international, multidisciplinary consensus group was formed to report a consensus-derived set of best practices for the diagnosis and evaluation of infants with RS as a starting point for defining standards and management.
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CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development.
Graziella Pinto,Véronique Abadie,R. Mesnage,J. Blustajn,S Cabrol,Jeanne Amiel,Lucie Hertz-Pannier,Anne-Marie Bertrand,Stanislas Lyonnet,Raphaël Rappaport,Irene Netchine +10 more
TL;DR: Findings suggest that CHARGE syndrome includes the main features of Kallmann syndrome, which is defined by hypog onadotropic hypogonadism combined with a defective sense of smell and abnormal olfactory bulb development.
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Effectiveness of Chest Physiotherapy in Infants Hospitalized with Acute Bronchiolitis: A Multicenter, Randomized, Controlled Trial
Vincent Gajdos,Vincent Gajdos,Sandrine Katsahian,Nicole Beydon,Véronique Abadie,Véronique Abadie,Loïc de Pontual,Sophie Larrar,Ralph Epaud,Bertrand Chevallier,Sylvain Bailleux,Alix Mollet-Boudjemline,Jean Bouyer,Jean Bouyer,Sylvie Chevret,Philippe Labrune +15 more
TL;DR: Results of a randomized trial conducted among hospitalized infants with bronchiolitis show that a physiotherapy technique commonly used in France does not reduce time to recovery in this population.
Journal ArticleDOI
Neuropsychologic Functions of Early Treated Patients with Phenylketonuria, on and off Diet: Results of a Cross-National and Cross-Sectional Study
TL;DR: It is preferably safer to maintain Phe blood levels below 360 μmol/L at least during the first 10 y of life, calling into question the benefit of treating patients with early treated phenylketonuria off diet.
Journal ArticleDOI
CpG dinucleotides are mutation hot spots in phenylketonuria.
Véronique Abadie,Stanislas Lyonnet,N Maurin,M. Berthelon,Catherine Caillaud,F. Giraud,Jean-François Mattei,Jean Rey,Françoise Rey,Arnold Munnich +9 more
TL;DR: The systematic sequence analysis of exon 7 in 20 unrelated PAH-deficient kindreds of Mediterranean ancestry resulted in the detection of two novel missense mutations whose location and nature were consistent with the accidental deamination of a 5-methylcytosine in a CpG doublet.