Barbey F - 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: barbey f. 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: barbey f. Respiration. 2017;94(1):2-13. doi: 10.1159/000475762. Epub 2017 May 16. Respiration. 2017. PMID: 28505614 Free article. Review.

3

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: barbey f. 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

4

Ascending aortic remodelling in Fabry disease after long-term enzyme replacement therapy.

Monney P, Qanadli SD, Hajdu S, Tran C, Schwitter J, Dormond O, Barbey F. Monney P, et al. Among authors: barbey f. Swiss Med Wkly. 2017 Nov 9;147:w14517. doi: 10.4414/smw.2017.14517. eCollection 2017. Swiss Med Wkly. 2017. PMID: 29120015 Free article.

5

The use of ⁶⁸Ga-EDTA PET allows detecting progressive decline of renal function in rats.

Fontana AO, Gonzalez Melo M, Allenbach G, Georgantas C, Wang R, Braissant O, Barbey F, Prior JO, Ballhausen D, Viertl D. Fontana AO, et al. Among authors: barbey f. Am J Nucl Med Mol Imaging. 2021 Dec 15;11(6):519-528. eCollection 2021. Am J Nucl Med Mol Imaging. 2021. PMID: 35003889 Free PMC article.

6

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: barbey f. 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.

7

[Inborn errors of metabolism: transition from childhood to adulthood].

Tran C, Barbey F, Pitteloud N, Philippe J, Kern I, Bonafé L. Tran C, et al. Among authors: barbey f. Rev Med Suisse. 2015 Feb 18;11(462):445-9. Rev Med Suisse. 2015. PMID: 25915985 French.

8

A knock-in rat model unravels acute and chronic renal toxicity in glutaric aciduria type I.

Gonzalez Melo M, Fontana AO, Viertl D, Allenbach G, Prior JO, Rotman S, Feichtinger RG, Mayr JA, Costanzo M, Caterino M, Ruoppolo M, Braissant O, Barbey F, Ballhausen D. Gonzalez Melo M, et al. Among authors: barbey f. Mol Genet Metab. 2021 Dec;134(4):287-300. doi: 10.1016/j.ymgme.2021.10.003. Epub 2021 Nov 10. Mol Genet Metab. 2021. PMID: 34799272 Free article.

9

[Raising the internist's know-how in the field of rare diseases: mitochondrial diseases as an illustrative example].

Tran C, Serratrice J, Nuoffer JM, Schaller A, Favrat B, Barbey F, Lobrinus JA, Kern I, Kuntzer T, Ballhausen D. Tran C, et al. Among authors: barbey f. Rev Med Suisse. 2017 Jan 18;13(546):159-163. Rev Med Suisse. 2017. PMID: 28703515 Free article. Review. French.

10

Hypermobile Ehlers-Danlos-like syndrome in Fabry disease.

Barbey F, Lidove O, Dormond O. Barbey F, et al. Clin Genet. 2019 May;95(5):627-628. doi: 10.1111/cge.13497. Epub 2019 Jan 15. Clin Genet. 2019. PMID: 30644091 No abstract available.

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