E-LIB Suche - Ergebnisse für: Cheillan, David

1

A pseudoautosomal glycosylation disorder prompts the revisi..:

Wilson, Matthew P. ; Kentache, Takfarinas ; Althoff, Charlotte R....
Cell. 187 (2024) 14 - p. 3784 , 2024

Link: https://doi.org/10.1016/..

2

Clinical Characteristics, Developmental Trajectory, and Car..:

Curie, Aurore ; Lion-François, Laurence ; Valayannopoulos, Vassili...
Neurology. 102 (2024) 8 - p. , 2024

Link: https://doi.org/10.1212/..

3

Intestinal absorption of sphingosine: new insights on gener..:

Calzada, Catherine ; Cheillan, David ; Ritsch, Nina...
Journal of Lipid Research. 65 (2024) 6 - p. 100557 , 2024

Link: https://doi.org/10.1016/..

4

A pseudoautosomal glycosylation disorder prompts the revisi..:

Wilson, Matthew P. ; Kentache, Takfarinas ; Althoff, Charlotte R....
Cell. 187 (2024) 14 - p. 3585-3601.e22 , 2024

Link: https://doi.org/10.1016/..

5

Functional and Molecular Characterization of New SPTLC1 Mis..:

Rochat, Julie ; Blavier, André ; Ruet, Séverine...
Genes. 15 (2024) 6 - p. 692 , 2024

Link: https://doi.org/10.3390/..

6

Newborn Screening of Primary Carnitine Deficiency: An Overv..:

Lefèvre, Charles R. ; Labarthe, François ; Dufour, Diane...
International Journal of Neonatal Screening. 9 (2023) 1 - p. 6 , 2023

Link: https://doi.org/10.3390/..

7

Autosomal dominant Zellweger spectrum disorder caused by de..:

Waterham, Hans R. ; Koster, Janet ; Ebberink, Merel S....
Genetics in Medicine. 25 (2023) 11 - p. 100944 , 2023

Link: https://doi.org/10.1016/..

8

Reply to Maase et al. Comment on "Jones et al. Application ..:

Jones, Simon A. ; Cheillan, David ; Chakrapani, Anupam...
International Journal of Neonatal Screening. 9 (2023) 1 - p. 8 , 2023

Link: https://doi.org/10.3390/..

9

Role of circulating sphingolipids in lipid metabolism: Why ..:

Calzada, Catherine ; Vors, Cécile ; Penhoat, Armelle..
Frontiers in Nutrition. 9 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

10

LC-MS/MS quantification of three C16 sulfatide species in d..:

Pettazzoni, Magali ; Rotaru, Irina ; Ruet, Severine...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107265 , 2023

Link: https://doi.org/10.1016/..

11

Towards Achieving Equity and Innovation in Newborn Screenin..:

Sikonja, Jaka ; Groselj, Urh ; Scarpa, Maurizio...
International Journal of Neonatal Screening. 8 (2022) 2 - p. 31 , 2022

Link: https://doi.org/10.3390/..

12

A Meal Rich in Palm Oil or Butter Modifies the Sphingolipid..:

Michalski, Marie-Caroline ; Calzada, Catherine ; Cheillan, David...
Current Developments in Nutrition. 6 (2022) - p. 450 , 2022

Link: https://doi.org/10.1093/..

13

A meal rich in palm oil or butter modifies the sphingolipid..:

Boulet, Marie Michèle ; Calzada, Catherine ; Pettazzoni, Magali...
Biochimie. 203 (2022) - p. 11-19 , 2022

Link: https://doi.org/10.1016/..

14

Application of a Novel Algorithm for Expanding Newborn Scre..:

Jones, Simon A. ; Cheillan, David ; Chakrapani, Anupam...
International Journal of Neonatal Screening. 8 (2022) 1 - p. 20 , 2022

Link: https://doi.org/10.3390/..

15

A New Approach to Objectively Evaluate Inherited Metabolic ..:

Burlina, Alberto ; Jones, Simon A. ; Chakrapani, Anupam...
International Journal of Neonatal Screening. 8 (2022) 2 - p. 25 , 2022

Link: https://doi.org/10.3390/..