Kolexia
Schiff Manuel Pédiatrie
Schiff Manuel
Pédiatrie
Hôpital Necker Enfants Malades
Paris, France
210 Activités
0 Followers
Scientifique
Digital
Production scientifique
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Expertise
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{{person.topmesh1.name}} Maladies mitochondriales Maladies rares Urgences Erreurs innées du métabolisme Aminoacidopathies congénitales Homocystinurie Maladies métaboliques Cardiomyopathies Déficience intellectuelle

Collaborateurs

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Benoist Jean-Francois
Benoist Jean-Francois
Hôpital Necker Enfants Malades, Paris, France
Brassier Anais
Brassier Anais
Hôpital Necker Enfants Malades, Paris, France
Mention-Mulliez Karine
Mention-Mulliez Karine
Hôpital Jeanne de Flandre, Lille, France
Cano Aline
Cano Aline
Hôpital La Timone Enfants, Marseille, France

Industries

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Ultragenyx
5 collaboration(s)
Dernière en 2023
Ipsen
3 collaboration(s)
Dernière en 2021
Bouchara-Recordati
2 collaboration(s)
Dernière en 2021
Sobi
1 collaboration(s)
Dernière en 2020

Dernières activités

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Vitamin deficiencies in children: Lessons from clinical and neuroimaging findings
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society   26 février 2024
Recurrent "outsider" intronic variation in the 6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb.
Frontiers in genetics   29 janvier 2024
Biallelic variants in DAP3, encoding the mitochondrial ribosomal protein MRPS29, cause a Perrault syndrome spectrum phenotype
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
New description of an MRPS2 homozygous patient: Further features to help expend the phenotype.
European journal of medical genetics   27 novembre 2023
Citrulline in the management of patients with urea cycle disorders.
Orphanet journal of rare diseases   21 juillet 2023
Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findings.
Molecular genetics and metabolism   11 juillet 2023
258th ENMC international workshop Leigh syndrome spectrum: genetic causes, natural history and preparing for clinical trials 25-27 March 2022, Hoofddorp, Amsterdam, The Netherlands.
Neuromuscular disorders : NMD   15 juin 2023
Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational study.
European journal of neurology   10 juin 2023
Enasidenib treatment in two individuals with D-2-hydroxyglutaric aciduria carrying a germline IDH2 mutation.
Nature medicine   29 mai 2023
JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study.
Journal of clinical immunology   12 mai 2023