E-LIB Suche - Ergebnisse für: Cano, Aline

1

Deoxyguanosine kinase deficiency: natural history and liver..:

Manzoni, Eleonora ; Carli, Sara ; Gaignard, Pauline...
Brain Communications. 6 (2024) 3 - p. , 2024

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

2

Leukocytes containing lipid inclusions in congenital ichthy..:

Mallet, Stéphanie ; Frankel, Diane ; Jonca, Nathalie...
International Journal of Dermatology. , 2024

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

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

Long‐term follow‐up of 64 children with classical infantile..:

Tardieu, Marine ; Cudejko, Céline ; Cano, Aline...
European Journal of Neurology. 30 (2023) 9 - p. 2828-2837 , 2023

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

5

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/..

6

Systemic corticosteroids for the treatment of acute episode..:

Tuchmann‐Durand, Caroline ; Roda, Célina ; Renard, Perrine...
Journal of Inherited Metabolic Disease. 46 (2023) 4 - p. 649-661 , 2023

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

7

French recommendations for the management of glycogen stora..:

Wicker, Camille ; Cano, Aline ; Decostre, Valérie...
European Journal of Medical Research. 28 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

8

Executive functions in preschool children with moderate hyp..:

Paermentier, Laetitia ; Cano, Aline ; Chabrol, Brigitte.
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

9

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/..

10

Long term follow-up after haematopoietic stem cell transpla..:

Gardin, Antoine ; Castelle, Martin ; Pichard, Samia...
Bone Marrow Transplantation. 58 (2022) 3 - p. 295-302 , 2022

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

11

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/..

12

Hyperglycinemia in a 5-Week-Old Boy with Pulmonary Arterial..:

Neveu, Julien ; Cano, Aline ; Hoebeke, Celia...
Clinical Chemistry. 68 (2022) 4 - p. 604-606 , 2022

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

13

Postauthorization safety study of betaine anhydrous:

Mütze, Ulrike ; Gleich, Florian ; Garbade, Sven F....
Journal of Inherited Metabolic Disease. 45 (2022) 4 - p. 719-733 , 2022

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

14

Dilated-Left Ventricular Non-Compaction Cardiomyopathy in a..:

Jaouadi, Hager ; El Louali, Fedoua ; Wanert, Chloé...
International Journal of Molecular Sciences. 23 (2022) 9 - p. 5205 , 2022

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

15

Very long‐term outcomes in 23 patients with cblA type methy..:

Marelli, Cecilia ; Fouilhoux, Alain ; Benoist, Jean‐Francois...
Journal of Inherited Metabolic Disease. 45 (2022) 5 - p. 937-951 , 2022

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