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Page 1
Human genetic defects of sphingolipid synthesis.
Dubot P, Sabourdy F, Levade T. Dubot P, et al. Among authors: sabourdy f. J Inherit Metab Dis. 2025 Jan;48(1):e12745. doi: 10.1002/jimd.12745. Epub 2024 May 5. J Inherit Metab Dis. 2025. PMID: 38706107 Review.
Human genetic disorders of sphingolipid biosynthesis.
Astudillo L, Sabourdy F, Therville N, Bode H, Ségui B, Andrieu-Abadie N, Hornemann T, Levade T. Astudillo L, et al. Among authors: sabourdy f. J Inherit Metab Dis. 2015 Jan;38(1):65-76. doi: 10.1007/s10545-014-9736-1. Epub 2014 Aug 21. J Inherit Metab Dis. 2015. PMID: 25141825 Review.
Genetic disorders of simple sphingolipid metabolism.
Albinet V, Bats ML, Bedia C, Sabourdy F, Garcia V, Ségui B, Andrieu-Abadie N, Hornemann T, Levade T. Albinet V, et al. Among authors: sabourdy f. Handb Exp Pharmacol. 2013;(215):127-52. doi: 10.1007/978-3-7091-1368-4_7. Handb Exp Pharmacol. 2013. PMID: 23579453 Review.
Monogenic neurological disorders of sphingolipid metabolism.
Sabourdy F, Astudillo L, Colacios C, Dubot P, Mrad M, Ségui B, Andrieu-Abadie N, Levade T. Sabourdy F, et al. Biochim Biophys Acta. 2015 Aug;1851(8):1040-51. doi: 10.1016/j.bbalip.2015.01.010. Epub 2015 Feb 7. Biochim Biophys Acta. 2015. PMID: 25660725 Review.
Potential Role of Sphingolipidoses-Associated Lysosphingolipids in Cancer.
Dubot P, Astudillo L, Therville N, Carrié L, Pettazzoni M, Cheillan D, Stirnemann J, Levade T, Andrieu-Abadie N, Sabourdy F. Dubot P, et al. Among authors: sabourdy f. Cancers (Basel). 2022 Oct 5;14(19):4858. doi: 10.3390/cancers14194858. Cancers (Basel). 2022. PMID: 36230781 Free PMC article. Review.
[Hereditary peroxisomal diseases].
Astudillo L, Sabourdy F, Touati G, Levade T. Astudillo L, et al. Among authors: sabourdy f. Presse Med. 2016 Mar;45(3):302-12. doi: 10.1016/j.lpm.2015.05.009. Epub 2016 Feb 18. Presse Med. 2016. PMID: 26899150 Review. French.
Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency.
Sabourdy F, Mourey L, Le Trionnaire E, Bednarek N, Caillaud C, Chaix Y, Delrue MA, Dusser A, Froissart R, Garnotel R, Guffon N, Megarbane A, Ogier de Baulny H, Pédespan JM, Pichard S, Valayannopoulos V, Verloes A, Levade T. Sabourdy F, et al. Orphanet J Rare Dis. 2015 Mar 15;10:31. doi: 10.1186/s13023-015-0244-7. Orphanet J Rare Dis. 2015. PMID: 25885655 Free PMC article.
33 results