Bonafé L - Search Results

1

Are heterozygous carriers for hereditary fructose intolerance predisposed to metabolic disturbances when exposed to fructose?

Debray FG, Damjanovic K, Rosset R, Mittaz-Crettol L, Roux C, Braissant O, Barbey F, Bonafé L, De Bandt JP, Tappy L, Paquot N, Tran C. Debray FG, et al. Among authors: bonafe l. Am J Clin Nutr. 2018 Aug 1;108(2):292-299. doi: 10.1093/ajcn/nqy092. Am J Clin Nutr. 2018. PMID: 29955837 Free article. Clinical Trial.

2

Pulmonary Involvement in Adult Patients with Inborn Errors of Metabolism.

Tran C, Barbey F, Lazor R, Bonafé L. Tran C, et al. Among authors: bonafe l. Respiration. 2017;94(1):2-13. doi: 10.1159/000475762. Epub 2017 May 16. Respiration. 2017. PMID: 28505614 Free article. Review.

3

Adult classical homocystinuria requiring parenteral nutrition: Pitfalls and management.

Tran C, Bonafé L, Nuoffer JM, Rieger J, Berger MM. Tran C, et al. Among authors: bonafe l. Clin Nutr. 2018 Aug;37(4):1114-1120. doi: 10.1016/j.clnu.2017.07.013. Epub 2017 Jul 25. Clin Nutr. 2018. PMID: 28779878 Review.

4

The unsolved puzzle of neuropathogenesis in glutaric aciduria type I.

Jafari P, Braissant O, Bonafé L, Ballhausen D. Jafari P, et al. Among authors: bonafe l. Mol Genet Metab. 2011 Dec;104(4):425-37. doi: 10.1016/j.ymgme.2011.08.027. Epub 2011 Sep 2. Mol Genet Metab. 2011. PMID: 21944461 Review.

5

Ammonium accumulation and cell death in a rat 3D brain cell model of glutaric aciduria type I.

Jafari P, Braissant O, Zavadakova P, Henry H, Bonafé L, Ballhausen D. Jafari P, et al. Among authors: bonafe l. PLoS One. 2013;8(1):e53735. doi: 10.1371/journal.pone.0053735. Epub 2013 Jan 10. PLoS One. 2013. PMID: 23326493 Free PMC article.

6

Hepatosplenomegaly, pneumopathy, bone changes and fronto-temporal dementia: Niemann-Pick type B and SQSTM1-associated Paget's disease in the same individual.

Voinea C, Gonzalez Rodriguez E, Beigelman-Aubry C, Leroy V, Aubry-Rozier B, Campos-Xavier B, Ballhausen D, Lazor R, Barbey F, Bonafé L, Superti-Furga A, Tran C. Voinea C, et al. Among authors: bonafe l. J Bone Miner Metab. 2019 Mar;37(2):378-383. doi: 10.1007/s00774-018-0932-1. Epub 2018 Jun 14. J Bone Miner Metab. 2019. PMID: 29948344

7

Brain damage in methylmalonic aciduria: 2-methylcitrate induces cerebral ammonium accumulation and apoptosis in 3D organotypic brain cell cultures.

Jafari P, Braissant O, Zavadakova P, Henry H, Bonafé L, Ballhausen D. Jafari P, et al. Among authors: bonafe l. Orphanet J Rare Dis. 2013 Jan 8;8:4. doi: 10.1186/1750-1172-8-4. Orphanet J Rare Dis. 2013. PMID: 23298464 Free PMC article.

8

A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly.

Jackson CB, Bauer MF, Schaller A, Kotzaeridou U, Ferrarini A, Hahn D, Chehade H, Barbey F, Tran C, Gallati S, Haeberli A, Eggimann S, Bonafé L, Nuoffer JM. Jackson CB, et al. Among authors: bonafe l. Eur J Pediatr. 2016 Apr;175(4):517-25. doi: 10.1007/s00431-015-2661-y. Epub 2015 Nov 13. Eur J Pediatr. 2016. PMID: 26563427 Free article.

9

Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder - an alternative therapeutic approach.

Pichler K, Karall D, Kotzot D, Steichen-Gersdorf E, Rümmele-Waibel A, Mittaz-Crettol L, Wanschitz J, Bonafé L, Maurer K, Superti-Furga A, Scholl-Bürgi S. Pichler K, et al. Among authors: bonafe l. Sci Rep. 2016 Sep 30;6:34017. doi: 10.1038/srep34017. Sci Rep. 2016. PMID: 27687687 Free PMC article.

10

Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia.

Simon M, Campos-Xavier AB, Mittaz-Crettol L, Valadares ER, Carvalho D, Speck-Martins CE, Nampoothiri S, Alanay Y, Mihci E, van Bever Y, Garcia-Segarra N, Cavalcanti D, Mortier G, Bonafé L, Superti-Furga A. Simon M, et al. Among authors: bonafe l. Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):230-7. doi: 10.1002/ajmg.c.31339. Epub 2012 Jul 12. Am J Med Genet C Semin Med Genet. 2012. PMID: 22791571

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