E-LIB Suche - Ergebnisse für: Froissart, Roseline

1

A Caribbean case of phosphoglycerate mutase deficiency: Rel..:

Sarrazin, Elisabeth ; Laforet, Pascal ; Tournier, Simon...
Medical Reports. 3 (2024) - p. 100038 , 2024

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

2

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/..

3

Acid sphingomyelinase deficiency: Epidemiologic and genetic..:

Pettazzoni, Magali ; Froissart, Roseline ; Vanier, Marie T.
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107263 , 2023

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

4

Natural history of GM1 gangliosidosis—Retrospective cohort ..:

Laur, Domitille ; Pichard, Samia ; Bekri, Soumeya...
Journal of Inherited Metabolic Disease. 46 (2023) 5 - p. 972-981 , 2023

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

5

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/..

6

Severe neuromuscular forms of glycogen storage disease type..:

Lefèvre, Charles R. ; Collardeau‐Frachon, Sophie ; Streichenberger, Nathalie...
Journal of Inherited Metabolic Disease. 47 (2023) 2 - p. 255-269 , 2023

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

7

A diagnosis of progressive myoclonic ataxia guided by blood..:

Dubot, Patricia ; Rafiq, Marie ; Curot, Jonathan...
Parkinsonism & Related Disorders. 94 (2022) - p. 124-126 , 2022

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

8

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/..

9

Novel Intronic Mutation in VMA21 Causing Severe Phenotype o..:

Pegat, Antoine ; Streichenberger, Nathalie ; Lacoste, Nicolas...
Genes. 13 (2022) 12 - p. 2245 , 2022

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

10

Prevalence of Cancer in Acid Sphingomyelinase Deficiency:

Mauhin, Wladimir ; Levade, Thierry ; Vanier, Marie T...
Journal of Clinical Medicine. 10 (2021) 21 - p. 5029 , 2021

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

11

Diagnostic biochimique et moléculaire des maladies de surch..:

Pettazzoni, Magali ; Froissart, Roseline
Revue Francophone des Laboratoires. 2021 (2021) 536 - p. 58-66 , 2021

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

12

A novel PHKA1 mutation associating myopathy and cognitive i..:

Bisciglia, Michela ; Froissart, Roseline ; Bedat-Millet, Anne Laure...
Journal of the Neurological Sciences. 424 (2021) - p. 117391 , 2021

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

13

A Cross-Sectional Retrospective Study of Non-Splenectomized..:

Serratrice, Christine ; Stirnemann, Jérôme ; Berrahal, Amina...
Journal of Clinical Medicine. 9 (2020) 8 - p. 2343 , 2020

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

14

Amino Acids Bearing Aromatic or Heteroaromatic Substituents..:

Dubois, Lilian ; Pietrancosta, Nicolas ; Cabaye, Alexandre...
Journal of Medicinal Chemistry. 63 (2020) 15 - p. 8231-8249 , 2020

Link: https://doi.org/10.1021/..

15

Urine glucose tetrasaccharide: A good biomarker for glycoge..:

Piraud, Monique ; Pettazzoni, Magali ; de Antonio, Marie...
Molecular Genetics and Metabolism Reports. 23 (2020) - p. 100583 , 2020

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