Fingerhut R - Search Results

1

A simple dried blood spot-method for in vivo measurement of ureagenesis by gas chromatography-mass spectrometry using stable isotopes.

Allegri G, Deplazes S, Grisch-Chan HM, Mathis D, Fingerhut R, Häberle J, Thöny B. Allegri G, et al. Among authors: fingerhut r. Clin Chim Acta. 2017 Jan;464:236-243. doi: 10.1016/j.cca.2016.11.038. Epub 2016 Dec 5. Clin Chim Acta. 2017. PMID: 27923571

2

Postprandial changes of amino acid and acylcarnitine concentrations in dried blood samples.

Fingerhut R, De Jesus Silva Arevalo G, Baumgartner MR, Häberle J, Rohrbach M, Figueroa AW, Fresse EM, Polanco OL, Torresani T. Fingerhut R, et al. J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S235-9. doi: 10.1007/s10545-010-9167-6. Epub 2010 Jul 21. J Inherit Metab Dis. 2010. PMID: 20652412

3

Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis.

Zimmermann M, Jacobs P, Fingerhut R, Torresani T, Thöny B, Blau N, Baumgartner MR, Rohrbach M. Zimmermann M, et al. Among authors: fingerhut r. Mol Genet Metab. 2012 Jul;106(3):264-8. doi: 10.1016/j.ymgme.2012.04.016. Epub 2012 Apr 25. Mol Genet Metab. 2012. PMID: 22607939

4

First experience with a fully automated extraction system for simultaneous on-line direct tandem mass spectrometric analysis of amino acids and (acyl-)carnitines in a newborn screening setting.

Fingerhut R, Silva Polanco ML, Silva Arevalo Gde J, Swiderska MA. Fingerhut R, et al. Rapid Commun Mass Spectrom. 2014 Apr 30;28(8):965-73. doi: 10.1002/rcm.6856. Rapid Commun Mass Spectrom. 2014. PMID: 24623702

5

Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency.

Korner G, Noain D, Ying M, Hole M, Flydal MI, Scherer T, Allegri G, Rassi A, Fingerhut R, Becu-Villalobos D, Pillai S, Wueest S, Konrad D, Lauber-Biason A, Baumann CR, Bindoff LA, Martinez A, Thöny B. Korner G, et al. Among authors: fingerhut r. Brain. 2015 Oct;138(Pt 10):2948-63. doi: 10.1093/brain/awv224. Epub 2015 Aug 14. Brain. 2015. PMID: 26276013 Free article.

6

Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation.

Diez-Fernandez C, Wellauer O, Gemperle C, Rüfenacht V, Fingerhut R, Häberle J. Diez-Fernandez C, et al. Among authors: fingerhut r. J Med Genet. 2016 Oct;53(10):710-9. doi: 10.1136/jmedgenet-2016-103937. Epub 2016 Jun 10. J Med Genet. 2016. PMID: 27287393

7

Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.

Forny P, Schumann A, Mustedanagic M, Mathis D, Wulf MA, Nägele N, Langhans CD, Zhakupova A, Heeren J, Scheja L, Fingerhut R, Peters HL, Hornemann T, Thony B, Kölker S, Burda P, Froese DS, Devuyst O, Baumgartner MR. Forny P, et al. Among authors: fingerhut r. J Biol Chem. 2016 Sep 23;291(39):20563-73. doi: 10.1074/jbc.M116.747717. Epub 2016 Aug 12. J Biol Chem. 2016. PMID: 27519416 Free PMC article.

8

Dried Blood Spot Thyroglobulin as a Biomarker of Iodine Status in Pregnant Women.

Stinca S, Andersson M, Weibel S, Herter-Aeberli I, Fingerhut R, Gowachirapant S, Hess SY, Jaiswal N, Jukic T, Kusic Z, Mabapa NS, Nepal AK, San Luis TO, Zhen JQ, Zimmermann MB. Stinca S, et al. Among authors: fingerhut r. J Clin Endocrinol Metab. 2017 Jan 1;102(1):23-32. doi: 10.1210/jc.2016-2829. J Clin Endocrinol Metab. 2017. PMID: 27732337 Free article.

9

Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations.

Diez-Fernandez C, Rüfenacht V, Gemperle C, Fingerhut R, Häberle J. Diez-Fernandez C, et al. Among authors: fingerhut r. Hum Mutat. 2018 Aug;39(8):1029-1050. doi: 10.1002/humu.23545. Epub 2018 Jun 21. Hum Mutat. 2018. PMID: 29726057

10

Treatment of a metabolic liver disease by in vivo genome base editing in adult mice.

Villiger L, Grisch-Chan HM, Lindsay H, Ringnalda F, Pogliano CB, Allegri G, Fingerhut R, Häberle J, Matos J, Robinson MD, Thöny B, Schwank G. Villiger L, et al. Among authors: fingerhut r. Nat Med. 2018 Oct;24(10):1519-1525. doi: 10.1038/s41591-018-0209-1. Epub 2018 Oct 8. Nat Med. 2018. PMID: 30297904 Free article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

104 results

Search Page

Filters