Kolexia
Valayannopoulos Vassilios Pédiatrie
Valayannopoulos Vassilios
Pédiatrie
Hôpital Necker Enfants Malades
Paris, France
147 Activités
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{{person.topmesh1.name}} Maladie de Wolman Mucopolysaccharidoses Aminoacidopathies congénitales Mucopolysaccharidose de type I Anomalies congénitales du cycle de l'urée Maladie de stockage des esters de cholestérol Maladies lysosomiales Troubles tardifs Acidémie propionique

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Arnoux Jean-Baptiste
Arnoux Jean-Baptiste
Hôpital Necker Enfants Malades, Paris, France
Brassier Anais
Brassier Anais
Hôpital Necker Enfants Malades, Paris, France
Debeney-De Lonlay Pascale
Debeney-De Lonlay Pascale
Hôpital Necker Enfants Malades, Paris, France
Boddaert Nathalie
Boddaert Nathalie
Hôpital Necker Enfants Malades, Paris, France

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Dernières activités

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The natural history, clinical outcomes, and genotype-phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review.
Human genetics   07 septembre 2023
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences.
Brain : a journal of neurology   01 février 2022
Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.
Nutrients   27 octobre 2021
ARISE: A Multicenter, Randomized, Placebo-controlled Study of SBC-102 in Patients With Lysosomal Acid Lipase Deficiency
Essai Clinique (Alexion)   02 décembre 2020
Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients.
Journal of inherited metabolic disease   01 avril 2020
Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disorders.
Molecular genetics and metabolism   19 mars 2020
Diagnosis and Management of Carpal Tunnel Syndrome in Children with Mucopolysaccharidosis: A 10 Year Experience.
Diagnostics (Basel, Switzerland)   20 décembre 2019
Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.
Journal of inherited metabolic disease   20 novembre 2019
Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.
Journal of inherited metabolic disease   20 novembre 2019
Betaine anhydrous in homocystinuria: results from the RoCH registry.
Orphanet journal of rare diseases   14 mars 2019