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Page 1
Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles.
Pontoizeau C, Habarou F, Brassier A, Veauville-Merllié A, Grisel C, Arnoux JB, Vianey-Saban C, Barouki R, Chadefaux-Vekemans B, Acquaviva C, de Lonlay P, Ottolenghi C. Pontoizeau C, et al. JIMD Rep. 2016;27:39-45. doi: 10.1007/8904_2015_481. Epub 2015 Sep 27. JIMD Rep. 2016. PMID: 26409463 Free PMC article.
Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood.
Mauhin W, Habarou F, Gobin S, Servais A, Brassier A, Grisel C, Roda C, Pinto G, Moshous D, Ghalim F, Krug P, Deltour N, Pontoizeau C, Dubois S, Assoun M, Galmiche L, Bonnefont JP, Ottolenghi C, de Blic J, Arnoux JB, de Lonlay P. Mauhin W, et al. Among authors: pontoizeau c. Orphanet J Rare Dis. 2017 Jan 5;12(1):3. doi: 10.1186/s13023-016-0550-8. Orphanet J Rare Dis. 2017. PMID: 28057010 Free PMC article.
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.
Habarou F, Hamel Y, Haack TB, Feichtinger RG, Lebigot E, Marquardt I, Busiah K, Laroche C, Madrange M, Grisel C, Pontoizeau C, Eisermann M, Boutron A, Chrétien D, Chadefaux-Vekemans B, Barouki R, Bole-Feysot C, Nitschke P, Goudin N, Boddaert N, Nemazanyy I, Delahodde A, Kölker S, Rodenburg RJ, Korenke GC, Meitinger T, Strom TM, Prokisch H, Rotig A, Ottolenghi C, Mayr JA, de Lonlay P. Habarou F, et al. Among authors: pontoizeau c. Am J Hum Genet. 2017 Aug 3;101(2):283-290. doi: 10.1016/j.ajhg.2017.07.001. Epub 2017 Jul 27. Am J Hum Genet. 2017. PMID: 28757203 Free PMC article.
Autism spectrum disorders in propionic acidemia patients.
de la Bâtie CD, Barbier V, Roda C, Brassier A, Arnoux JB, Valayannopoulos V, Guemann AS, Pontoizeau C, Gobin S, Habarou F, Lacaille F, Bonnefont JP, Canouï P, Ottolenghi C, De Lonlay P, Ouss L. de la Bâtie CD, et al. Among authors: pontoizeau c. J Inherit Metab Dis. 2018 Jul;41(4):623-629. doi: 10.1007/s10545-017-0070-2. Epub 2017 Aug 30. J Inherit Metab Dis. 2018. PMID: 28856627
Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease.
Abi-Wardé MT, Roda C, Arnoux JB, Servais A, Habarou F, Brassier A, Pontoizeau C, Barbier V, Bayart M, Leboeuf V, Chadefaux-Vekemans B, Dubois S, Assoun M, Belloche C, Alili JM, Husson MC, Lesage F, Dupic L, Theuil B, Ottolenghi C, de Lonlay P. Abi-Wardé MT, et al. Among authors: pontoizeau c. J Inherit Metab Dis. 2017 Nov;40(6):783-792. doi: 10.1007/s10545-017-0083-x. Epub 2017 Sep 13. J Inherit Metab Dis. 2017. PMID: 28905140
Long-term outcome of methylmalonic aciduria after kidney, liver, or combined liver-kidney transplantation: The French experience.
Brassier A, Krug P, Lacaille F, Pontoizeau C, Krid S, Sissaoui S, Servais A, Arnoux JB, Legendre C, Charbit M, Scemla A, Francoz C, Benoist JF, Schiff M, Mochel F, Touati G, Broué P, Cano A, Tardieu M, Querciagrossa S, Grévent D, Boyer O, Dupic L, Oualha M, Girard M, Aigrain Y, Debray D, Capito C, Ottolenghi C, Salomon R, Chardot C, de Lonlay P. Brassier A, et al. Among authors: pontoizeau c. J Inherit Metab Dis. 2020 Mar;43(2):234-243. doi: 10.1002/jimd.12174. Epub 2020 Feb 11. J Inherit Metab Dis. 2020. PMID: 31525265
47 results