Sarah Snanoudj

4PUBLICATIONS
6CO-AUTHORS
NeonatologyMedical biochemistry - amino acids and metabolitesCardiovascular medicine and haematology not elsewhere classified
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Publications (4)

|Jan 08, 2023
Analysis of Enzyme Activity and Cellular Function for the N80S and S480F Asparagine Synthetase Variants Expressed in a Child with Asparagine Synthetase Deficiency.

Stephen J Staklinski, Sarah Snanoudj, Anne-Marie Guerrot

|Dec 10, 2021
Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family.

Sarah Snanoudj, Stéphanie Torre, Bénédicte Sudrié-Arnaud

|Nov 27, 2021
An Atypical Case of Congenital Erythropoietic Porphyria.

Bénédicte Sudrié-Arnaud, Marine Legendre, Sarah Snanoudj

|Mar 19, 2021
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.

Abdellah Tebani, Bénédicte Sudrié-Arnaud, Ivana Dabaj

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