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232 results

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Page 1
Pulmonary alveolar proteinosis in children on La Réunion Island: a new inherited disorder?
Enaud L, Hadchouel A, Coulomb A, Berteloot L, Lacaille F, Boccon-Gibod L, Boulay V, Darcel F, Griese M, Linard M, Louha M, Renouil M, Rivière JP, Toupance B, Verkarre V, Delacourt C, de Blic J. Enaud L, et al. Among authors: lacaille f. Orphanet J Rare Dis. 2014 Jun 14;9:85. doi: 10.1186/1750-1172-9-85. Orphanet J Rare Dis. 2014. PMID: 24927752 Free PMC article.
Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.
Salomon J, Goulet O, Canioni D, Brousse N, Lemale J, Tounian P, Coulomb A, Marinier E, Hugot JP, Ruemmele F, Dufier JL, Roche O, Bodemer C, Colomb V, Talbotec C, Lacaille F, Campeotto F, Cerf-Bensussan N, Janecke AR, Mueller T, Koletzko S, Bonnefont JP, Lyonnet S, Munnich A, Poirier F, Smahi A. Salomon J, et al. Among authors: lacaille f. Hum Genet. 2014 Mar;133(3):299-310. doi: 10.1007/s00439-013-1380-6. Epub 2013 Oct 19. Hum Genet. 2014. PMID: 24142340
MYO5B and bile salt export pump contribute to cholestatic liver disorder in microvillous inclusion disease.
Girard M, Lacaille F, Verkarre V, Mategot R, Feldmann G, Grodet A, Sauvat F, Irtan S, Davit-Spraul A, Jacquemin E, Ruemmele F, Rainteau D, Goulet O, Colomb V, Chardot C, Henrion-Caude A, Debray D. Girard M, et al. Among authors: lacaille f. Hepatology. 2014 Jul;60(1):301-10. doi: 10.1002/hep.26974. Epub 2014 May 27. Hepatology. 2014. PMID: 24375397
Successful Use of Sirolimus in Children With Large Mesenteric Lymphatic Lesions.
Gastineau S, Paolella G, Talbotec C, Verkarre V, Sauvat F, Goulet O, Fraitag S, Lacaille F. Gastineau S, et al. Among authors: lacaille f. J Pediatr Gastroenterol Nutr. 2018 Jan;66(1):e24-e25. doi: 10.1097/MPG.0000000000001703. J Pediatr Gastroenterol Nutr. 2018. PMID: 28777125 No abstract available.
Arterial abnormalities identified in kidneys transplanted into children during the COVID-19 pandemic.
Berteloot L, Berthaud R, Temmam S, Lozach C, Zanelli E, Blanc T, Heloury Y, Capito C, Chardot C, Sarnacki S, Garcelon N, Lacaille F, Charbit M, Pastural M, Rabant M, Boddaert N, Leruez-Ville M, Eloit M, Sermet-Gaudelus I, Dehoux L, Boyer O. Berteloot L, et al. Among authors: lacaille f. Am J Transplant. 2021 May;21(5):1937-1943. doi: 10.1111/ajt.16464. Epub 2021 Feb 18. Am J Transplant. 2021. PMID: 33346946 Free PMC article.
Methionine supplementation for multi-organ dysfunction in MetRS-related pulmonary alveolar proteinosis.
Hadchouel A, Drummond D, Pontoizeau C, Aoust L, Hurtado Nedelec MM, El Benna J, Gachelin E, Perisson C, Vigier C, Schiff M, Lacaille F, Molina TJ, Berteloot L, Renolleau S, Ottolenghi C, Tréluyer JM, de Blic J, Delacourt C. Hadchouel A, et al. Among authors: lacaille f. Eur Respir J. 2022 Apr 21;59(4):2101554. doi: 10.1183/13993003.01554-2021. Print 2022 Apr. Eur Respir J. 2022. PMID: 34503986 Free article.
Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up.
Demaret T, Lacaille F, Wicker C, Arnoux JB, Bouchereau J, Belloche C, Gitiaux C, Grevent D, Broissand C, Adjaoud D, Abi Warde MT, Plantaz D, Bekri S, de Lonlay P, Brassier A. Demaret T, et al. Among authors: lacaille f. Orphanet J Rare Dis. 2021 Dec 14;16(1):507. doi: 10.1186/s13023-021-02134-3. Orphanet J Rare Dis. 2021. PMID: 34906190 Free PMC article.
Systemic inflammatory syndrome in children with FARSA deficiency.
Charbit-Henrion F, Goguyer-Deschaumes R, Borensztajn K, Mirande M, Berthelet J, Rodrigues-Lima F, Khiat A, Frémond ML, Bader-Meunier B, Rodari MM, Seabra L, Rice GI, Legendre M, Drummond D, Berteloot L, Roux CJ, Boddaert N, Drabent P, Molina TJ, Lacaille F, Kossorotoff M, Cerf-Bensussan N, Parlato M, Hadchouel A. Charbit-Henrion F, et al. Among authors: lacaille f. Clin Genet. 2022 May;101(5-6):552-558. doi: 10.1111/cge.14120. Epub 2022 Feb 17. Clin Genet. 2022. PMID: 35132614 Free PMC article.
232 results