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Imbard, Apolline
91  results:
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1

Pubertal origin of growth retardation in inborn errors of p..:

Busiah, Kanetee ; Roda, Célina ; Crosnier, Anne-Sophie...
Molecular Genetics and Metabolism.  141 (2024)  3 - p. 108123 , 2024
Link: https://doi.org/10.1016/..
 
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2

Vitamin deficiencies in children: Lessons from clinical and..:

Dupuy, Gabrielle ; Roux, Charles-Joris ; Barrois, Rémi...
European Journal of Paediatric Neurology.  50 (2024)  - p. 6-15 , 2024
Link: https://doi.org/10.1016/..
 
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3

TANGO2-related rhabdomyolysis symptoms are associated with ..:

de Calbiac, Hortense ; Montealegre, Sebastian ; Straube, Marjolène...
Autophagy Reports.  3 (2024)  1 - p. , 2024
Link: https://doi.org/10.1080/..
 
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4

Late‐onset refractory hemolytic anemia in siblings treated ..:

Nguyen, Alexandre ; Deshayes, Samuel ; Nowoczyn, Marie...
JIMD Reports.  65 (2024)  3 - p. 163-170 , 2024
Link: https://doi.org/10.1002/..
 
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5

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/..
 
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6

Covid-19: Possible trigger of SLC13A3 reversible leukoencep..:

Imbard, Apolline ; Pernet, Julie ; Tarrano, Clément...
Molecular Genetics and Metabolism.  136 (2022)  2 - p. 83-84 , 2022
Link: https://doi.org/10.1016/..
 
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7

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/..
 
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8

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/..
 
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9

Cholesterol accumulation induced by acetylated LDL exposure..:

Becker, Pierre-Hadrien ; Le Guillou, Edouard ; Duque, Mathilde...
Biochimie.  200 (2022)  - p. 87-98 , 2022
Link: https://doi.org/10.1016/..
 
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10

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/..
 
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11

Initial presentation, management and follow-up data of 33 t..:

Hajji, Hela ; Imbard, Apolline ; Spraul, Anne...
Molecular Genetics and Metabolism Reports.  33 (2022)  - p. 100933 , 2022
Link: https://doi.org/10.1016/..
 
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12

Liver and brain differential expression of one-carbon metab..:

Imbard, Apolline ; Schwendimann, Leslie ; Lebon, Sophie...
Scientific Reports.  11 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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13

Adenosine kinase deficiency: Three new cases and diagnostic..:

Becker, Pierre-Hadrien ; Demir, Zeynep ; Mozer Glassberg, Yael...
Molecular Genetics and Metabolism.  132 (2021)  1 - p. 38-43 , 2021
Link: https://doi.org/10.1016/..
 
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14

An Unusual Peak in a Common Clinical Presentation:

Sudrié-Arnaud, Bénédicte ; Snanoudj, Sarah ; Imbard, Apolline..
Clinical Chemistry.  67 (2021)  5 - p. 799-801 , 2021
Link: https://doi.org/10.1093/..
 
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15

AICA‐ribosiduria due toATICdeficiency: Delineation of the p..:

Ramond, Francis ; Rio, Marlène ; Héron, Bénédicte...
Journal of Inherited Metabolic Disease.  43 (2020)  6 - p. 1254-1264 , 2020
Link: https://doi.org/10.1002/..
 
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