Barbey F - Search Results

1

[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.

2

[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.

3

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.

4

[Recent insights into polycystic kidney disease].

Bonny O, Chehade H, Fellmann F, Qanadli SD, Barbey F. Bonny O, et al. Among authors: barbey f. Rev Med Suisse. 2010 Mar 3;6(238):454-9. Rev Med Suisse. 2010. PMID: 20344996 French.

5

[Diagnosis of renal cysts].

Wuerzner G, Taddei S, Meuwly JY, Cachat F, Burnier M, Barbey F. Wuerzner G, et al. Among authors: barbey f. Rev Med Suisse. 2005 Feb 23;1(8):534-8, 541-2. Rev Med Suisse. 2005. PMID: 15794302 Review. French.

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: 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

7

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.

8

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.

9

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.

10

[Clinical and genetics aspects of Alport syndrome].

Golshayan D, Venetz JP, Cachat F, Fellmann F, Moll S, Burnier M, Barbey F. Golshayan D, et al. Among authors: barbey f. Rev Med Suisse. 2006 Mar 1;2(55):593-8. Rev Med Suisse. 2006. PMID: 16562603 Review. French.

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