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Cécile Acquaviva

Centre national de la recherche scientifique

5

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40

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Antenatal manifestations of inborn errors of metabolism: biological diagnosis.

2016 Journal of Inherited Metabolic Disease
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Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in Fibroblasts

2016
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Genetic basis of cystinosis in Tunisian patients: Identification of novel mutation in CTNS gene

2015 Meta Gene
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HETEROGENOUS CLINICAL AND LABORATORY PRESENTATIONS IN MAD DEFICIENCY

2013
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