I agree that this site is using cookies. You can find further informations here.
X
Benoist, Jean‐Francois
372  results:
Search for persons X
?
1

Le syndrome LHIPFOLD : une nouvelle cause traitable de leuc..:

Mandia, Daniele ; Metodiev, Metodi ; Benoist, Jean-François...
Revue Neurologique.  180 (2024)  - p. S23 , 2024
Link: https://doi.org/10.1016/..
 
?
2

Effect of urine alkalization on urinary inflammatory marker..:

Prot-Bertoye, Caroline ; Jung, Vincent ; Tostivint, Isabelle...
Clinical Kidney Journal.  17 (2024)  3 - p. , 2024
Link: https://doi.org/10.1093/..
 
?
3

Metabolomics Analysis of Rabbit Plasma after Ocular Exposur..:

Bouhlel, Jihéne ; Caffin, Fanny ; Gros-Désormeaux, Fanny...
Metabolites.  14 (2024)  7 - p. 349 , 2024
Link: https://doi.org/10.3390/..
 
?
4

Juvenile neuropsychiatric systemic lupus erythematosus: A s..:

Labouret, Mathilde ; Trebossen, Vincent ; Ntorkou, Alexandra...
Lupus.  33 (2024)  4 - p. 328-339 , 2024
Link: https://doi.org/10.1177/..
 
?
5

Deafness, Encephalopathy, and Lactic Acidosis: What If It W..:

Germain, Nicolas ; Vaudran, Lucie ; Guemann, Anne-Sophie..
Clinical Chemistry.  69 (2023)  10 - p. 1200-1203 , 2023
Link: https://doi.org/10.1093/..
 
?
6

Postnatal outcome of children with antenatal colonic hypere..:

Fuchs, Florent ; Rodriguez, Alexis ; Mousty, Eve...
Prenatal Diagnosis.  44 (2023)  1 - p. 28-34 , 2023
Link: https://doi.org/10.1002/..
 
?
7

Genetic screening in thrombotic microangiopathy: a plea for..:

Rafat, Cédric ; Doreille, Alice ; Dancer, Marine...
Clinical Kidney Journal.  16 (2023)  11 - p. 2299-2301 , 2023
Link: https://doi.org/10.1093/..
 
?
8

Citrulline in the management of patients with urea cycle di..:

Imbard, Apolline ; Bouchereau, Juliette ; Arnoux, Jean-Baptiste...
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
?
9

Heterozygous pathogenic variation in GCH1 associated with t..:

Ravel, Jean-Marie ; Michaud, Maud ; Frismand, Solène...
Parkinsonism & Related Disorders.  109 (2023)  - p. 105310 , 2023
Link: https://doi.org/10.1016/..
 
?
10

Efficacy and pharmacokinetics of betaine in CBS and cblC de..:

Imbard, Apolline ; Toumazi, Artemis ; Magréault, Sophie...
Orphanet Journal of Rare Diseases.  17 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
?
11

Epimutations in both the TESK2 and MMACHC promoters in the ..:

Oussalah, Abderrahim ; Siblini, Youssef ; Hergalant, Sébastien...
Clinical Epigenetics.  14 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
?
12

Disorders of Branched-Chain Amino Acid Metabolism:

, In: Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases,
Schiff, Manuel ; Benoist, Jean-François ; Brassier, Anaïs. - p. 391-432 , 2022
Link: https://doi.org/10.1007/..
 
?
13

LC-MS/MS Identification of Prolidase Deficiency: A Rare Cau..:

Taibi, Ludmia ; Schlemmer, Dimitri ; Bouchereau, Juliette...
Clinical Chemistry.  68 (2022)  3 - p. 478-480 , 2022
Link: https://doi.org/10.1093/..
 
?
14

Diagnostic approach in adult-onset neurometabolic diseases:

Fernández-Eulate, Gorka ; Carreau, Christophe ; Benoist, Jean-François...
Journal of Neurology, Neurosurgery & Psychiatry.  93 (2022)  4 - p. 413-421 , 2022
Link: https://doi.org/10.1136/..
 
?
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/..
 
1-15