Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

33 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Beta-mannosidosis: a new cause of spinocerebellar ataxia.
Labauge P, Renard D, Castelnovo G, Sabourdy F, de Champfleur N, Levade T. Labauge P, et al. Among authors: sabourdy f. Clin Neurol Neurosurg. 2009 Jan;111(1):109-10. doi: 10.1016/j.clineuro.2008.09.007. Epub 2008 Nov 5. Clin Neurol Neurosurg. 2009. PMID: 18980795
Danon disease: further clinical and molecular heterogeneity.
Sabourdy F, Michelakakis H, Anastasakis A, Garcia V, Mavridou I, Nieto M, Pons MC, Skiadas C, Moraitou M, Manta P, Elleder M, Levade T. Sabourdy F, et al. Muscle Nerve. 2009 Jun;39(6):837-44. doi: 10.1002/mus.21252. Muscle Nerve. 2009. PMID: 19373884
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.
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.
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.
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.
[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.
33 results