Langhans, Claus-Dieter Dr. rer. nat.Universität HeidelbergHeidelberg
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- Sommerburg, Olaf (3)
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Recent publications in heiBIB 
(In total there are 29 publications catalogued)
- Osmanovic, Alma: Heterozygous DHTKD1 variants in two European cohorts of amyotrophic lateral sclerosis patients / Alma Osmanovic, Isabel Gogol, Helge Martens, Maylin Widjaja, Kathrin Müller, Olivia Schreiber-Katz, … , 2022. - 15 S.
In: Genes, ISSN 2073-4425. 13(2022), 1, Artikel-ID 84, Seite 1-15
DOI: 10.3390/genes13010084
- Lim, Pei Jin: Omics profiling of S2P mutant fibroblasts as a mean to unravel the pathomechanism and molecular signatures of X-linked MBTPS2 osteogenesis imperfecta / Pei Jin Lim, Severin Marfurt, Uschi Lindert, Lennart Opitz, Timothée Ndarugendamwo, Pakeerathan Srik… , 21 May 2021. - 22 S.
In: Frontiers in genetics, ISSN 1664-8021. 12(2021) vom: Mai, Artikel-ID 662751, Seite 1-22
DOI: 10.3389/fgene.2021.662751
- Sommerburg, Olaf: CFTR modulator therapy with lumacaftor/ivacaftor alters plasma concentrations of lipid-soluble vitamins A and E in patients with cystic fibrosis / Olaf Sommerburg, Susanne Hämmerling, S. Philipp Schneider, Jürgen Okun, Claus-Dieter Langhans, Patri… , 19 March 2021. - 15 S.
In: Antioxidants, ISSN 2076-3921. 10(2021), 3, Artikel-ID 483, Seite 1-15
DOI: 10.3390/antiox10030483
- Brennenstuhl, Heiko: Semi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a reliable diagnostic marker for aromatic L-amino acid decarboxylase deficiency / Heiko Brennenstuhl, Sven F. Garbade, Jürgen G. Okun, Patrik Feyh, Georg F. Hoffmann, Claus-Dieter La… , 07 July 2020. - 8 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 131(2020), 1/2, Seite 163-170
DOI: 10.1016/j.ymgme.2020.07.001
- Aidaros, Anas Al: Targeted metabolomic profiling of total fatty acids in human plasma by liquid chromatography-tandem mass spectrometry / Anas Al Aidaros, Charu Sharma, Claus-Dieter Langhans, Jürgen G. Okun, Georg F. Hoffmann, Majed Dasou… , 9 October 2020. - 15 S.
In: Metabolites, ISSN 2218-1989. 10(2020,10) Artikel-Nummer 400, 15 Seiten
DOI: 10.3390/metabo10100400
- Al-Dirbashi, Osama Y.: Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism / Osama Y. Al-Dirbashi, Majid Alfadhel, Khalid Al-Thihli, Nahid Al Dhahouri, Claus-Dieter Langhans, Za… , 26 August 2019. - 7 S.
In: Scientific reports, ISSN 2045-2322. 9(2019) Artikel-Nummer 12366, 7 Seiten
DOI: 10.1038/s41598-019-48885-9
- Monostori, Péter: Extended diagnosis of purine and pyrimidine disorders from urine : LC MS/MS assay development and clinical validation / Péter Monostori, Glynis Klinke, Jana Hauke, Sylvia Richter, Jörgen Bierau, Sven F. Garbade, Georg F.… , February 28, 2019. - 17 S.
In: PLOS ONE, ISSN 1932-6203. 14(2019,2) Artikel-Nummer e0212458, 17 Seiten
DOI: 10.1371/journal.pone.0212458
- Al Dhahouri, Nahid: Quantification of methylcitrate in dried urine spots by liquid chromatography tandem mass spectrometry for the diagnosis of propionic and methylmalonic acidemias / Nahid Al Dhahouri, Claus-Dieter Langhans, Zalikha Al Hammadi, Jürgen G. Okun, Georg F. Hoffmann, Fat… , 11 September 2018. - 5 S.
In: Clinica chimica acta, ISSN 1873-3492. 487(2018), Seite 41-45
DOI: 10.1016/j.cca.2018.09.017
- Körver‐Keularts, Irene: Fast and accurate quantitative organic acid analysis with LC-QTOF/MS facilitates screening of patients for inborn errors of metabolism / Irene M.L.W. Körver‐Keularts, Ping Wang, Huub W.A.H. Waterval, Leo A.J. Kluijtmans, Ron A. Wevers, C… , 12 February 2018. - 10 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 41(2018), 3, Seite 415-424
DOI: 10.1007/s10545-017-0129-0
- Gödiker, J.: QIL1-dependent assembly of MICOS complex-lethal mutation in C19ORF70 resulting in liver disease and severe neurological retardation / J. Gödiker, M. Grüneberg, I. DuChesne, J. Reunert, S. Rust, C. Westermann, Y. Wada, G. Classen, C.D.… , 04 April 2018. - 12 S.
In: Journal of human genetics, ISSN 1435-232X. 63(2018), 6, Seite 707-716
DOI: 10.1038/s10038-018-0442-y
