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

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2011 1
2012 1
2015 2
2016 1
2017 1
2018 1
2020 2
2021 3
2022 2
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

12 results

Results by year

Filters applied: . Clear all
Page 1
Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies.
François-Heude MC, Lebigot E, Roze E, Warde MTA, Cances C, Damaj L, Espil C, Fluss J, de Lonlay P, Kern I, Lenaers G, Munnich A, Meyer P, Spitz MA, Torre S, Doummar D, Touati G, Leboucq N, Roubertie A. François-Heude MC, et al. Among authors: torre s. Eur J Neurol. 2022 Nov;29(11):3229-3242. doi: 10.1111/ene.15515. Epub 2022 Aug 9. Eur J Neurol. 2022. PMID: 36200804 Free article.
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
Tebani A, Sudrié-Arnaud B, Dabaj I, Torre S, Domitille L, Snanoudj S, Heron B, Levade T, Caillaud C, Vergnaud S, Saugier-Veber P, Coutant S, Dranguet H, Froissart R, Al Khouri M, Alembik Y, Baruteau J, Arnoux JB, Brassier A, Brehin AC, Busa T, Cano A, Chabrol B, Coubes C, Desguerre I, Doco-Fenzy M, Drenou B, Elcioglu NH, Elsayed S, Fouilhoux A, Poirsier C, Goldenberg A, Jouvencel P, Kuster A, Labarthe F, Lazaro L, Pichard S, Rivera S, Roche S, Roggerone S, Roubertie A, Sigaudy S, Spodenkiewicz M, Tardieu M, Vanhulle C, Marret S, Bekri S. Tebani A, et al. Among authors: torre s. J Med Genet. 2022 Apr;59(4):377-384. doi: 10.1136/jmedgenet-2020-107510. Epub 2021 Mar 18. J Med Genet. 2022. PMID: 33737400
Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria.
Abily-Donval L, Torre S, Samson A, Sudrié-Arnaud B, Acquaviva C, Guerrot AM, Benoist JF, Marret S, Bekri S, Tebani A. Abily-Donval L, et al. Among authors: torre s. Int J Mol Sci. 2017 Nov 1;18(11):2294. doi: 10.3390/ijms18112294. Int J Mol Sci. 2017. PMID: 29104221 Free PMC article.
Acute Respiratory Infection Unveiling CPT II Deficiency.
Blah N, Sudrié-Arnaud B, Torre S, Marret S, Bekri S, Tebani A. Blah N, et al. Among authors: torre s. Int J Mol Sci. 2018 Sep 27;19(10):2950. doi: 10.3390/ijms19102950. Int J Mol Sci. 2018. PMID: 30262761 Free PMC article.
Long term outcome of MPI-CDG patients on D-mannose therapy.
Girard M, Douillard C, Debray D, Lacaille F, Schiff M, Vuillaumier-Barrot S, Dupré T, Fabre M, Damaj L, Kuster A, Torre S, Mention K, McLin V, Dobbelaere D, Borgel D, Bauchard E, Seta N, Bruneel A, De Lonlay P. Girard M, et al. Among authors: torre s. J Inherit Metab Dis. 2020 Nov;43(6):1360-1369. doi: 10.1002/jimd.12289. Epub 2020 Aug 9. J Inherit Metab Dis. 2020. PMID: 33098580
Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family.
Snanoudj S, Torre S, Sudrié-Arnaud B, Abily-Donval L, Goldenberg A, Salomons GS, Marret S, Bekri S, Tebani A. Snanoudj S, et al. Among authors: torre s. Int J Mol Sci. 2021 Nov 23;22(23):12633. doi: 10.3390/ijms222312633. Int J Mol Sci. 2021. PMID: 34884438 Free PMC article.
Pyridoxine-dependent epilepsy: report on three families with neuropathology.
Marguet F, Barakizou H, Tebani A, Abily-Donval L, Torre S, Bayoudh F, Jebnoun S, Brasseur-Daudruy M, Marret S, Laquerriere A, Bekri S. Marguet F, et al. Among authors: torre s. Metab Brain Dis. 2016 Dec;31(6):1435-1443. doi: 10.1007/s11011-016-9869-z. Epub 2016 Jul 20. Metab Brain Dis. 2016. PMID: 27438048
Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency.
Lagoutte-Renosi J, Ségalas-Milazzo I, Crahes M, Renosi F, Menu-Bouaouiche L, Torre S, Lardennois C, Rio M, Marret S, Brasse-Lagnel C, Laquerrière A, Bekri S. Lagoutte-Renosi J, et al. Among authors: torre s. JIMD Rep. 2015 Oct 17;28:1-10. doi: 10.1007/8904_2015_499. Online ahead of print. JIMD Rep. 2015. PMID: 26475292 Free PMC article.
Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.
Bérat CM, Montealegre S, Wiedemann A, Nuzum MLC, Blondel A, Debruge H, Cano A, Chabrol B, Hoebeke C, Polak M, Stoupa A, Feillet F, Torre S, Boddaert N, Bruel H, Barth M, Damaj L, Abi-Wardé MT, Afenjar A, Benoist JF, Madrange M, Caccavelli L, Renard P, Hubas A, Nusbaum P, Pontoizeau C, Gobin S, van Endert P, Ottolenghi C, Maltret A, de Lonlay P. Bérat CM, et al. Among authors: torre s. J Inherit Metab Dis. 2021 Mar;44(2):415-425. doi: 10.1002/jimd.12314. Epub 2020 Sep 28. J Inherit Metab Dis. 2021. PMID: 32929747
Compared outcomes of very preterm infants born in 2000 and 2005.
Guerrot AM, Chadie A, Torre S, Rondeau S, Pinto Cardoso G, Abily-Donval L, Marret S; Perinatal Network of Haute-Normandie. Guerrot AM, et al. Among authors: torre s. Acta Paediatr. 2012 Jul;101(7):731-5. doi: 10.1111/j.1651-2227.2012.02678.x. Epub 2012 Apr 24. Acta Paediatr. 2012. PMID: 22452381
12 results