Debray FG - Search Results

1

Diagnostic pitfall in antenatal manifestations of CPT II deficiency.

Boemer F, Deberg M, Schoos R, Caberg JH, Gaillez S, Dugauquier C, Delbecque K, François A, Maton P, Demonceau N, Senterre G, Ferdinandusse S, Debray FG. Boemer F, et al. Among authors: debray fg. Clin Genet. 2016 Feb;89(2):193-7. doi: 10.1111/cge.12593. Epub 2015 May 5. Clin Genet. 2016. PMID: 25827434

2

Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15.

Debray FG, Lambert M, Lemieux B, Soucy JF, Drouin R, Fenyves D, Dubé J, Maranda B, Laframboise R, Mitchell GA. Debray FG, et al. J Med Genet. 2008 Nov;45(11):759-64. doi: 10.1136/jmg.2008.059097. J Med Genet. 2008. PMID: 18978333 Free article.

3

Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia.

Debray FG, Lambert M, Gagne R, Maranda B, Laframboise R, MacKay N, Robinson BH, Mitchell GA. Debray FG, et al. Neuropediatrics. 2008 Feb;39(1):20-3. doi: 10.1055/s-2008-1077084. Neuropediatrics. 2008. PMID: 18504677 Free article.

4

Reduced brain choline in homocystinuria due to remethylation defects.

Debray FG, Boulanger Y, Khiat A, Decarie JC, Orquin J, Roy MS, Lortie A, Ramos F, Verhoeven NM, Struys E, Blom HJ, Jakobs C, Levy E, Mitchell GA, Lambert M. Debray FG, et al. Neurology. 2008 Jul 1;71(1):44-9. doi: 10.1212/01.wnl.0000316391.40236.c3. Neurology. 2008. PMID: 18591504 Free article.

5

[Progressive muscular weakness of lower limbs revealing a limb girdle muscular dystrophy].

Saintmard G, Brands G, Debray FG, Lognard M. Saintmard G, et al. Among authors: debray fg. Rev Med Liege. 2017 Jul;72(7-8):373-376. Rev Med Liege. 2017. PMID: 28795552 Free article. French.

6

[A somatic disease causing a child psychiatric disorder].

Barrea C, Debray FG, Simon M, Leroy P. Barrea C, et al. Among authors: debray fg. Rev Med Liege. 2020 Jan;75(1):53-59. Rev Med Liege. 2020. PMID: 31920045 Free article. Review. French.

7

[How I explore… a disorder of intellectual development in a child].

Barrea C, Leroy P, Debray FG, Alkan S, Rousselle L. Barrea C, et al. Among authors: debray fg. Rev Med Liege. 2020 Oct;75(10):686-691. Rev Med Liege. 2020. PMID: 33030847 Free article. French.

8

[How I explore… autism spectrum disorder in a child].

Barrea C, Jadot A, Debray FG, Vrancken G, Leroy P. Barrea C, et al. Among authors: debray fg. Rev Med Liege. 2021 Oct;76(10):761-767. Rev Med Liege. 2021. PMID: 34632747 Free article. French.

9

Impact of newborn screening for fatty acid oxidation disorders on neurological outcome: A Belgian retrospective and multicentric study.

Everard E, Laeremans H, Boemer F, Marie S, Vincent MF, Dewulf JP, Debray FG, De Laet C, Nassogne MC. Everard E, et al. Among authors: debray fg. Eur J Paediatr Neurol. 2024 Mar;49:60-65. doi: 10.1016/j.ejpn.2024.02.003. Epub 2024 Feb 7. Eur J Paediatr Neurol. 2024. PMID: 38377647

10

Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders.

Colin E, Duffourd Y, Chevarin M, Tisserant E, Verdez S, Paccaud J, Bruel AL, Tran Mau-Them F, Denommé-Pichon AS, Thevenon J, Safraou H, Besnard T, Goldenberg A, Cogné B, Isidor B, Delanne J, Sorlin A, Moutton S, Fradin M, Dubourg C, Gorce M, Bonneau D, El Chehadeh S, Debray FG, Doco-Fenzy M, Uguen K, Chatron N, Aral B, Marle N, Kuentz P, Boland A, Olaso R, Deleuze JF, Sanlaville D, Callier P, Philippe C, Thauvin-Robinet C, Faivre L, Vitobello A. Colin E, et al. Among authors: debray fg. Front Cell Dev Biol. 2023 Feb 28;11:1021920. doi: 10.3389/fcell.2023.1021920. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 36926521 Free PMC article.

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