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Author/Creator Vincent, Marie‐Françoise

1. AICA‐ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long‐term update on the first case. Issue 6 (9th July 2020)

Authors:
Ramond, Francis; Rio, Marlène; Héron, Bénédicte; Imbard, Apolline; Marie, Sandrine; Billiemaz, Kareen; Denommé‐Pichon, Anne‐Sophie; Kuentz, Paul; Ceballos, Irène; Piraud, Monique; Vincent, Marie‐Françoise; Touraine, Renaud
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 6(2020)
Page Start:
1254
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. SLC13A3 variants cause acute reversible leukoencephalopathy and α‐ketoglutarate accumulation. Issue 3 (29th January 2019)

Authors:
Dewulf, Joseph P.; Wiame, Elsa; Dorboz, Imen; Elmaleh‐Bergès, Monique; Imbard, Apolline; Dumitriu, Dana; Rak, Malgorzata; Bourillon, Agnès; Helaers, Raphaël; Malla, Alisha; Renaldo, Florence; Boespflug‐Tanguy, Odile; Vincent, Marie‐Françoise; Benoist, Jean‐François; Wevers, Ron A.; Schlessinger, ...
Journal:
Annals of neurology
Issue:
Volume 85:Issue 3(2019)
Page Start:
385
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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