Langhans CD - Search Results

1

Omics Profiling of S2P Mutant Fibroblasts as a Mean to Unravel the Pathomechanism and Molecular Signatures of X-Linked MBTPS2 Osteogenesis Imperfecta.

Lim PJ, Marfurt S, Lindert U, Opitz L, Ndarugendamwo T, Srikanthan P, Poms M, Hersberger M, Langhans CD, Haas D, Rohrbach M, Giunta C. Lim PJ, et al. Among authors: langhans cd. Front Genet. 2021 May 21;12:662751. doi: 10.3389/fgene.2021.662751. eCollection 2021. Front Genet. 2021. PMID: 34093655 Free PMC article.

2

Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation.

Monostori P, Klinke G, Hauke J, Richter S, Bierau J, Garbade SF, Hoffmann GF, Langhans CD, Haas D, Okun JG. Monostori P, et al. Among authors: langhans cd. PLoS One. 2019 Feb 28;14(2):e0212458. doi: 10.1371/journal.pone.0212458. eCollection 2019. PLoS One. 2019. PMID: 30817767 Free PMC article.

3

Differential diagnosis in patients with suspected bile acid synthesis defects.

Haas D, Gan-Schreier H, Langhans CD, Rohrer T, Engelmann G, Heverin M, Russell DW, Clayton PT, Hoffmann GF, Okun JG. Haas D, et al. Among authors: langhans cd. World J Gastroenterol. 2012 Mar 14;18(10):1067-76. doi: 10.3748/wjg.v18.i10.1067. World J Gastroenterol. 2012. PMID: 22416181 Free PMC article.

4

Diagnosis and therapeutic monitoring of inborn errors of creatine metabolism and transport using liquid chromatography-tandem mass spectrometry in urine, plasma and CSF.

Haas D, Gan-Schreier H, Langhans CD, Anninos A, Haege G, Burgard P, Schulze A, Hoffmann GF, Okun JG. Haas D, et al. Among authors: langhans cd. Gene. 2014 Mar 15;538(1):188-94. doi: 10.1016/j.gene.2014.01.019. Epub 2014 Jan 15. Gene. 2014. PMID: 24440240

5

Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometry.

Hartmann S, Okun JG, Schmidt C, Langhans CD, Garbade SF, Burgard P, Haas D, Sass JO, Nyhan WL, Hoffmann GF. Hartmann S, et al. Among authors: langhans cd. Clin Chem. 2006 Jun;52(6):1127-37. doi: 10.1373/clinchem.2005.058842. Epub 2006 Apr 13. Clin Chem. 2006. PMID: 16613999

6

Semi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a reliable diagnostic marker for aromatic L-amino acid decarboxylase deficiency.

Brennenstuhl H, Garbade SF, Okun JG, Feyh P, Hoffmann GF, Langhans CD, Opladen T. Brennenstuhl H, et al. Among authors: langhans cd. Mol Genet Metab. 2020 Sep-Oct;131(1-2):163-170. doi: 10.1016/j.ymgme.2020.07.001. Epub 2020 Jul 7. Mol Genet Metab. 2020. PMID: 32675002

7

SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family.

Roeben B, Schüle R, Ruf S, Bender B, Alhaddad B, Benkert T, Meitinger T, Reich S, Böhringer J, Langhans CD, Vaz FM, Wortmann SB, Marquardt T, Haack TB, Krägeloh-Mann I, Schöls L, Synofzik M. Roeben B, et al. Among authors: langhans cd. J Med Genet. 2018 Jan;55(1):39-47. doi: 10.1136/jmedgenet-2017-104622. Epub 2017 Sep 15. J Med Genet. 2018. PMID: 28916646

8

QIL1-dependent assembly of MICOS complex-lethal mutation in C19ORF70 resulting in liver disease and severe neurological retardation.

Gödiker J, Grüneberg M, DuChesne I, Reunert J, Rust S, Westermann C, Wada Y, Classen G, Langhans CD, Schlingmann KP, Rodenburg RJ, Pohlmann R, Marquardt T. Gödiker J, et al. Among authors: langhans cd. J Hum Genet. 2018 Jun;63(6):707-716. doi: 10.1038/s10038-018-0442-y. Epub 2018 Apr 4. J Hum Genet. 2018. PMID: 29618761

9

Quantification of methylcitrate in dried urine spots by liquid chromatography tandem mass spectrometry for the diagnosis of propionic and methylmalonic acidemias.

Al Dhahouri N, Langhans CD, Al Hammadi Z, Okun JG, Hoffmann GF, Al-Jasmi F, Al-Dirbashi OY. Al Dhahouri N, et al. Among authors: langhans cd. Clin Chim Acta. 2018 Dec;487:41-45. doi: 10.1016/j.cca.2018.09.017. Epub 2018 Sep 11. Clin Chim Acta. 2018. PMID: 30217751

10

Blood Trimethylamine-N-Oxide Originates from Microbiota Mediated Breakdown of Phosphatidylcholine and Absorption from Small Intestine.

Stremmel W, Schmidt KV, Schuhmann V, Kratzer F, Garbade SF, Langhans CD, Fricker G, Okun JG. Stremmel W, et al. Among authors: langhans cd. PLoS One. 2017 Jan 27;12(1):e0170742. doi: 10.1371/journal.pone.0170742. eCollection 2017. PLoS One. 2017. PMID: 28129384 Free PMC article.

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