Ballhausen D - 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: ballhausen d. Rev Med Suisse. 2017 Jan 18;13(546):159-163. Rev Med Suisse. 2017. PMID: 28703515 Free article. Review. French.

2

[New therapies for children affected by bone diseases].

Ballhausen D, Dépraz NG, Kern I, Unger S, Bonafé L. Ballhausen D, et al. Rev Med Suisse. 2012 Feb 22;8(329):398-402. Rev Med Suisse. 2012. PMID: 22432239 French.

3

Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study.

Ballhausen D, Guerry F, Hahn D, Schaller A, Nuoffer JM, Bonafé L, Jeannet PY, Jacquemont S. Ballhausen D, et al. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S219-26. doi: 10.1007/s10545-010-9098-2. Epub 2010 May 11. J Inherit Metab Dis. 2010. PMID: 20458543 Free article.

4

Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study.

Abela L, Plecko B, Palla A, Burda P, Nuoffer JM, Ballhausen D, Rohrbach M. Abela L, et al. Among authors: ballhausen d. Orphanet J Rare Dis. 2014 Nov 26;9:176. doi: 10.1186/s13023-014-0176-7. Orphanet J Rare Dis. 2014. PMID: 25425405 Free PMC article.

5

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: ballhausen d. 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

6

Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy.

Van Winckel G, Ballhausen D, Wolf B, Procter M, Mao R, Burda P, Strambo D, Kuntzer T, Tran C. Van Winckel G, et al. Among authors: ballhausen d. Front Neurol. 2020 Oct 26;11:516799. doi: 10.3389/fneur.2020.516799. eCollection 2020. Front Neurol. 2020. PMID: 33192963 Free PMC article.

7

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: ballhausen d. 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.

8

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.

Boy N, Mühlhausen C, Maier EM, Ballhausen D, Baumgartner MR, Beblo S, Burgard P, Chapman KA, Dobbelaere D, Heringer-Seifert J, Fleissner S, Grohmann-Held K, Hahn G, Harting I, Hoffmann GF, Jochum F, Karall D, Konstantopoulous V, Krawinkel MB, Lindner M, Märtner EMC, Nuoffer JM, Okun JG, Plecko B, Posset R, Sahm K, Scholl-Bürgi S, Thimm E, Walter M, Williams M, Vom Dahl S, Ziagaki A, Zschocke J, Kölker S. Boy N, et al. Among authors: ballhausen d. J Inherit Metab Dis. 2023 May;46(3):482-519. doi: 10.1002/jimd.12566. Epub 2022 Nov 17. J Inherit Metab Dis. 2023. PMID: 36221165 Free article.

9

Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient.

Rimella-Le-Huu A, Henry H, Kern I, Hanquinet S, Roulet-Perez E, Newman CJ, Superti-Furga A, Bonafé L, Ballhausen D. Rimella-Le-Huu A, et al. Among authors: ballhausen d. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S381-6. doi: 10.1007/s10545-008-0959-x. Epub 2008 Aug 9. J Inherit Metab Dis. 2008. PMID: 18679822

10

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: ballhausen d. 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.

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