Hinderhofer K - Search Results

1

Quantitative retrospective natural history modeling for orphan drug development.

Garbade SF, Zielonka M, Komatsuzaki S, Kölker S, Hoffmann GF, Hinderhofer K, Mountford WK, Mengel E, Sláma T, Mechler K, Ries M. Garbade SF, et al. Among authors: hinderhofer k. J Inherit Metab Dis. 2021 Jan;44(1):99-109. doi: 10.1002/jimd.12304. Epub 2020 Sep 8. J Inherit Metab Dis. 2021. PMID: 32845020 Review.

2

Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening.

Gramer G, Haege G, Fang-Hoffmann J, Hoffmann GF, Bartram CR, Hinderhofer K, Burgard P, Lindner M. Gramer G, et al. Among authors: hinderhofer k. JIMD Rep. 2015;23:101-12. doi: 10.1007/8904_2015_439. Epub 2015 May 5. JIMD Rep. 2015. PMID: 25940036 Free PMC article.

3

Clinical Research in Vulnerable Populations: Variability and Focus of Institutional Review Boards' Responses.

Kästner B, Behre S, Lutz N, Bürger F, Luntz S, Hinderhofer K, Bendszus M, Hoffmann GF, Ries M. Kästner B, et al. Among authors: hinderhofer k. PLoS One. 2015 Aug 14;10(8):e0135997. doi: 10.1371/journal.pone.0135997. eCollection 2015. PLoS One. 2015. PMID: 26275228 Free PMC article. Clinical Trial.

4

Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.

Evers C, Staufner C, Granzow M, Paramasivam N, Hinderhofer K, Kaufmann L, Fischer C, Thiel C, Opladen T, Kotzaeridou U, Wiemann S, Schlesner M, Eils R, Kölker S, Bartram CR, Hoffmann GF, Moog U. Evers C, et al. Among authors: hinderhofer k. Mol Genet Metab. 2017 Aug;121(4):297-307. doi: 10.1016/j.ymgme.2017.06.014. Epub 2017 Jun 30. Mol Genet Metab. 2017. PMID: 28688840

5

Critical appraisal of genotype assessment in molybdenum cofactor deficiency.

Hinderhofer K, Mechler K, Hoffmann GF, Lampert A, Mountford WK, Ries M. Hinderhofer K, et al. J Inherit Metab Dis. 2017 Nov;40(6):801-811. doi: 10.1007/s10545-017-0077-8. Epub 2017 Sep 12. J Inherit Metab Dis. 2017. PMID: 28900816

6

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations.

Pitt JJ, Peters H, Boneh A, Yaplito-Lee J, Wieser S, Hinderhofer K, Johnson D, Zschocke J. Pitt JJ, et al. Among authors: hinderhofer k. J Inherit Metab Dis. 2015 May;38(3):459-66. doi: 10.1007/s10545-014-9801-9. Epub 2014 Dec 16. J Inherit Metab Dis. 2015. PMID: 25511235 Review.

7

Real-world outcomes in non-endemic hereditary transthyretin amyloidosis with polyneuropathy: a 20-year German single-referral centre experience.

Ungerer MN, Hund E, Purrucker JC, Huber L, Kimmich C, Aus dem Siepen F, Hein S, Kristen AV, Hinderhofer K, Kollmer J, Schönland S, Hegenbart U, Weiler M. Ungerer MN, et al. Among authors: hinderhofer k. Amyloid. 2021 Jun;28(2):91-99. doi: 10.1080/13506129.2020.1855134. Epub 2020 Dec 7. Amyloid. 2021. PMID: 33283548

8

Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature.

Behnecke A, Hinderhofer K, Bartsch O, Nümann A, Ipach ML, Damatova N, Haaf T, Dufke A, Riess O, Moog U. Behnecke A, et al. Among authors: hinderhofer k. Am J Med Genet A. 2011 Feb;155A(2):372-9. doi: 10.1002/ajmg.a.33656. Epub 2010 Oct 28. Am J Med Genet A. 2011. PMID: 21271657 Review.

9

Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations.

Pfarr N, Szamalek-Hoegel J, Fischer C, Hinderhofer K, Nagel C, Ehlken N, Tiede H, Olschewski H, Reichenberger F, Ghofrani AH, Seeger W, Grünig E. Pfarr N, et al. Among authors: hinderhofer k. Respir Res. 2011 Jul 29;12(1):99. doi: 10.1186/1465-9921-12-99. Respir Res. 2011. PMID: 21801371 Free PMC article.

10

Silver-Russell syndrome due to maternal uniparental disomy 7 and a familial reciprocal translocation t(7;13).

Behnecke A, Hinderhofer K, Jauch A, Janssen JW, Moog U. Behnecke A, et al. Among authors: hinderhofer k. Clin Genet. 2012 Nov;82(5):494-8. doi: 10.1111/j.1399-0004.2011.01792.x. Epub 2011 Oct 19. Clin Genet. 2012. PMID: 21954990

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