Association Française Niemann Pick

NPRF – Niemann-Pick Research Foundation

Different Niemann-Pick C1 Genotypes Generate Protein Phenotypes that Vary in their Intracellular Processing, Trafficking and Localization

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Association Française Niemann Pick

Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder - Collardeau‐Frachon - 2016 - Journal of Inherited Metabolic Disease - Wiley Online Library

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Different Niemann-Pick C1 Genotypes Generate Protein Phenotypes that Vary in their Intracellular Processing, Trafficking and Localization

Les 600 maladies récessives détectées par le TCG

Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism. - Abstract - Europe PMC