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Page 1
Successful treatment of severe MSUD in Bckdhb-/- mice with neonatal AAV gene therapy.
Pontoizeau C, Gaborit C, Tual N, Simon-Sola M, Rotaru I, Benoist M, Colella P, Lamazière A, Brassier A, Arnoux JB, Rötig A, Ottolenghi C, de Lonlay P, Mingozzi F, Cavazzana M, Schiff M. Pontoizeau C, et al. Among authors: de lonlay p. J Inherit Metab Dis. 2024 Jan;47(1):41-49. doi: 10.1002/jimd.12604. Epub 2023 Mar 15. J Inherit Metab Dis. 2024. PMID: 36880392
Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era.
Bui MT, Fernández-Eulate G, Evangelista T, Lacène E, Brochier G, Labasse C, Madelaine A, Chanut A, Beuvin M, Borsato-Levy F, Biancalana V, Barcia G, De Lonlay P, Laporte J, Böhm J, Romero NB. Bui MT, et al. Among authors: de lonlay p. Acta Neuropathol Commun. 2024 Dec 20;12(1):191. doi: 10.1186/s40478-024-01882-0. Acta Neuropathol Commun. 2024. PMID: 39707553 Free PMC article.
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.
Mochel F, Gras D, Luton MP, Nizou M, Giovannini D, Delattre C, Aubart M, Barth M, De Saint-Martin A, Doummar D, Essid N, Garros A, Le Camus CH, Hoebeke C, The Tich SN, Perivier M, Rivera S, Rolland A, Roubertie A, Sarret C, Sevin C, Ville D, Sitbon M, Costa JM, Pons R, Garcia-Cazorla A, Vuillaumier S, Petit V, Boespflug-Tanguy O, De Vivo DC; MetaGlut1 Study Group. Mochel F, et al. Neurology. 2023 Jun 6;100(23):e2360-e2373. doi: 10.1212/WNL.0000000000207296. Epub 2023 Apr 19. Neurology. 2023. PMID: 37076312 Free PMC article.
Case report: Exceptional transmission of congenital hyperinsulinism from a focal CHI mother to her diffuse CHI dichorionic diamniotic twins.
Telehuz D, Plesa O, Bouilloud F, Wucher H, De Lonlay P, Bérat CM, Saint-Martin C, Dupuy O, Arnoux JB. Telehuz D, et al. Among authors: de lonlay p. Front Endocrinol (Lausanne). 2024 Jun 17;15:1408003. doi: 10.3389/fendo.2024.1408003. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 38952388 Free PMC article.
Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin-1-deficient patients.
Tuchmann-Durand C, Roda C, Renard P, Mortamet G, Bérat CM, Altenburger L, de Larauz MH, Thevenet E, Cottart CH, Moulin F, Bouchereau J, Brassier A, Arnoux JB, Schiff M, Bednarek N, Lamireau D, Garros A, Mention K, Cano A, Finger L, Pelosi M, Brochet CS, Caccavelli L, Raphalen JH, Renolleau S, Oualha M, de Lonlay P. Tuchmann-Durand C, et al. Among authors: de larauz mh, de lonlay p. J Inherit Metab Dis. 2023 Jul;46(4):649-661. doi: 10.1002/jimd.12592. Epub 2023 Feb 3. J Inherit Metab Dis. 2023. PMID: 36680547
Hydroxychloroquine sulfate: A novel treatment for lipin-1 deficiency?
Renard P, Caccavelli L, Legendre A, Tuchmann-Durand C, Balakirouchenane D, Blanchet B, Narjoz C, Straube M, Hubas A, Garros A, Mention K, Bednarek N, Goudin N, Broissand C, Schlatter J, Cisternino S, Cagnard N, van Endert P, Diana J, de Calbiac H, de Lonlay P. Renard P, et al. Among authors: de calbiac h, de lonlay p. Biomed Pharmacother. 2023 Jul;163:114813. doi: 10.1016/j.biopha.2023.114813. Epub 2023 May 5. Biomed Pharmacother. 2023. PMID: 37150031 Free article.
TANGO2-related rhabdomyolysis symptoms are associated with abnormal autophagy functioning.
de Calbiac H, Montealegre S, Straube M, Renault S, Debruge H, Chentout L, Ciura S, Imbard A, Guillou EL, Marian A, Goudin N, Caccavelli L, Fabrega S, Hubas A, van Endert P, Dupont N, Diana J, Kabashi E, de Lonlay P. de Calbiac H, et al. Among authors: de lonlay p. Autophagy Rep. 2024 Feb 1;3(1):27694127.2024.2306766. doi: 10.1080/27694127.2024.2306766. eCollection 2024 Dec 31. Autophagy Rep. 2024. PMID: 39722856 Free PMC article.
Pubertal origin of growth retardation in inborn errors of protein metabolism: A longitudinal cohort study.
Busiah K, Roda C, Crosnier AS, Brassier A, Servais A, Wicker C, Dubois S, Assoun M, Belloche C, Ottolenghi C, Pontoizeau C, Souberbielle JC, Piketty ML, Perin L, Le Bouc Y, Arnoux JB, Netchine I, Imbard A, de Lonlay P. Busiah K, et al. Among authors: de lonlay p. Mol Genet Metab. 2024 Mar;141(3):108123. doi: 10.1016/j.ymgme.2023.108123. Epub 2024 Jan 1. Mol Genet Metab. 2024. PMID: 38219674
Efficacy of oral manganese and D-galactose therapy in a patient bearing a novel TMEM165 variant.
Durin Z, Raynor A, Fenaille F, Cholet S, Vuillaumier-Barrot S, Alili JM, Poupon J, Oussedik ND, Tuchmann-Durand C, Attali J, Touzé R, Dupré T, Lebredonchel E, Akaffou MA, Legrand D, de Lonlay P, Bruneel A, Foulquier F. Durin Z, et al. Among authors: de lonlay p. Transl Res. 2024 Apr;266:57-67. doi: 10.1016/j.trsl.2023.11.005. Epub 2023 Nov 25. Transl Res. 2024. PMID: 38013006 Free article.
365 results