E-LIB Suche - Ergebnisse für: Damaj, Léna

1

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/..

2

Individual and Family Determinants for Quality of Life in P..:

Ouattara, Abdoulaye ; Resseguier, Noemie ; Cano, Aline...
The Journal of Pediatrics. 254 (2023) - p. 39-47.e4 , 2023

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

3

Association between acute complications in PMM2-CDG patient..:

Wicker, Camille ; Roux, Charles-Joris ; Goujon, Louise...
Molecular Genetics and Metabolism. 140 (2023) 3 - p. 107674 , 2023

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

4

Determinants of Quality of Life in Children with Inborn Err..:

Ouattara, Abdoulaye ; Resseguier, Noemie ; Cano, Aline...
The Journal of Pediatrics. 242 (2022) - p. 192-200.e3 , 2022

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

5

Three-Country Snapshot of Ornithine Transcarbamylase Defici..:

Seker Yilmaz, Berna ; Baruteau, Julien ; Arslan, Nur...
Life. 12 (2022) 11 - p. 1721 , 2022

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

6

Movement disorders in valine métabolism diseases caused by ..:

François‐Heude, Marie‐Céline ; Lebigot, Elise ; Roze, Emmanuel...
European Journal of Neurology. 29 (2022) 11 - p. 3229-3242 , 2022

Link: https://doi.org/10.1111/..

7

Recommended respiratory tests are not routinely performed f..:

Denamur, Sophie ; Touati, Guy ; Debelleix, Stéphane...
ERJ Open Research. 8 (2022) 1 - p. 00567-2021 , 2022

Link: https://doi.org/10.1183/..

8

Influence of early identification and therapy on long‐term ..:

Yverneau, Mathilde ; Leroux, Stéphanie ; Imbard, Apolline...
Journal of Inherited Metabolic Disease. 45 (2022) 4 - p. 848-861 , 2022

Link: https://doi.org/10.1002/..

9

High rate of hypomorphic variants as the cause of inherited..:

Benkirane, Mehdi ; Marelli, Cecilia ; Guissart, Claire...
Genetics in Medicine. 23 (2021) 11 - p. 2160-2170 , 2021

Link: https://doi.org/10.1038/..

10

Adult‐onset diagnosis of urea cycle disorders: Results of a..:

Toquet, Ségolène ; Spodenkiewicz, Marta ; Douillard, Claire...
Journal of Inherited Metabolic Disease. 44 (2021) 5 - p. 1199-1214 , 2021

Link: https://doi.org/10.1002/..

11

Natural history of NF1 c.2970_2972del p.(Met992del): confir..:

Forde, Claire ; Burkitt-Wright, Emma ; Turnpenny, Peter D....
European Journal of Human Genetics. 30 (2021) 3 - p. 291-297 , 2021

Link: https://doi.org/10.1038/..

12

Severe Phenotype in Patients with Large Deletions of NF1:

Pacot, Laurence ; Vidaud, Dominique ; Sabbagh, Audrey...
Cancers. 13 (2021) 12 - p. 2963 , 2021

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

13

Long term outcome ofMPI‐CDGpatients on D‐mannose therapy:

Girard, Muriel ; Douillard, Claire ; Debray, Dominique...
Journal of Inherited Metabolic Disease. 43 (2020) 6 - p. 1360-1369 , 2020

Link: https://doi.org/10.1002/..

14

Incidental diagnosis of mucopolysaccharidosis type I in an ..:

Cospain, Auriane ; Dubourg, Christèle ; Gastineau, Swellen...
Molecular Genetics and Metabolism Reports. 24 (2020) - p. 100621 , 2020

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

15

Immunoassay Disruption by High-Dose Biotin Therapy: Fair Wa..:

Lefèvre, Charles R. ; Peltier, Lucas ; Damaj, Léna...
Pediatric Neurology. 112 (2020) - p. 8-9 , 2020

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