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Brassier, Anaïs
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1

Mini-COMET study: Safety and efficacy data after avalglucos..:

Kronn, David ; Kishnani, Priya ; Davison, James...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107920 , 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

Clinical Characteristics, Developmental Trajectory, and Car..:

Curie, Aurore ; Lion-François, Laurence ; Valayannopoulos, Vassili...
Neurology.  102 (2024)  8 - p. , 2024
Link: https://doi.org/10.1212/..
 
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4

In vivo corneal confocal microscopy revealing Gaucher disea..:

Martin, Gilles C. ; Brassier, Anaïs ; Gabison, Eric
Canadian Journal of Ophthalmology.  59 (2024)  3 - p. e265 , 2024
Link: https://doi.org/10.1016/..
 
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5

Cognitive impairment in children and adults with cerebroten..:

Salardaine, Quentin ; Shor, Natalia ; Villain, Nicolas...
Journal of Inherited Metabolic Disease.  , 2024
Link: https://doi.org/10.1002/..
 
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6

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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7

Using a novel measuring device to objectively evaluate the ..:

Kishnani, Priya S. ; Weinert, Marguerite C. ; Davison, James...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107918 , 2024
Link: https://doi.org/10.1016/..
 
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8

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/..
 
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9

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/..
 
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10

Successful treatment of severe MSUD in Bckdhb−/− mice with ..:

Pontoizeau, Clément ; Gaborit, Clovis ; Tual, Nolan...
Journal of Inherited Metabolic Disease.  47 (2023)  1 - p. 41-49 , 2023
Link: https://doi.org/10.1002/..
 
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11

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/..
 
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12

Troubles cognitifs dans la xanthomatose cérébrotendineuse :..:

Salardaine, Quentin ; Shor, Natalia ; Villain, Nicolas...
Revue Neurologique.  179 (2023)  - p. S36-S37 , 2023
Link: https://doi.org/10.1016/..
 
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13

Motor outcomes in patients with infantile and juvenile Pomp..:

Brassier, Anaïs ; Pichard, Samia ; Schiff, Manuel...
Molecular Genetics and Metabolism.  139 (2023)  4 - p. 107650 , 2023
Link: https://doi.org/10.1016/..
 
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14

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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15

Effects of miglustat therapy on neurological disorder and s..:

Freihuber, Cécile ; Dahmani-Rabehi, Bahia ; Brassier, Anaïs...
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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