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Neurocognitive profiles in MSUD school-age patients.
J Inherit Metab Dis. 2017 May;40(3):377-383. doi: 10.1007/s10545-017-0033-7. Epub 2017 Mar 21.
J Inherit Metab Dis. 2017.
PMID: 28324240
Neuropsychological Disorders in Moderate Hyperphenylalaninemia: Literature Review.
Paermentier L, Cano A, Chabrol B, Roy A.
Paermentier L, et al.
Dev Neuropsychol. 2023 Jan-Feb;48(1):31-45. doi: 10.1080/87565641.2022.2162902. Epub 2023 Jan 3.
Dev Neuropsychol. 2023.
PMID: 36594744
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Executive functions in preschool children with moderate hyperphenylalaninemia and phenylketonuria: a prospective study.
Paermentier L, Cano A, Chabrol B, Roy A.
Paermentier L, et al.
Orphanet J Rare Dis. 2023 Jul 3;18(1):175. doi: 10.1186/s13023-023-02764-9.
Orphanet J Rare Dis. 2023.
PMID: 37400895
Free PMC article.
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Use of a book to disclose a diagnosis of Duchenne muscular dystrophy to a young child: A pilot study.
Audic F, Catillon P, Berbis J, Paermentier L, Gizard F, Chabrol B.
Audic F, et al. Among authors: paermentier l.
Arch Pediatr. 2022 Jan;29(1):51-55. doi: 10.1016/j.arcped.2021.10.008. Epub 2021 Dec 6.
Arch Pediatr. 2022.
PMID: 34876333
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Autonomic dysfunction is a major feature of cerebellar ataxia, neuropathy, vestibular areflexia 'CANVAS' syndrome.
Wu TY, Taylor JM, Kilfoyle DH, Smith AD, McGuinness BJ, Simpson MP, Walker EB, Bergin PS, Cleland JC, Hutchinson DO, Anderson NE, Snow BJ, Anderson TJ, Paermentier LA, Cutfield NJ, Chancellor AM, Mossman SS, Roxburgh RH.
Wu TY, et al. Among authors: paermentier la.
Brain. 2014 Oct;137(Pt 10):2649-56. doi: 10.1093/brain/awu196. Epub 2014 Jul 28.
Brain. 2014.
PMID: 25070514
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