Publications by authors named "Laura S Kremer"

22Publications

The diagnosis of inborn errors of metabolism by an integrative "multi-omics" approach: A perspective encompassing genomics, transcriptomics, and proteomics.

J Inherit Metab Dis 2020 01 25;43(1):25-35. Epub 2019 Jun 25.

Institute of Human Genetics, Technische Universität München, München, Germany.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.12130
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http://dx.doi.org/10.1002/jimd.12130DOI Listing
January 2020

"Transcriptomics": molecular diagnosis of inborn errors of metabolism via RNA-sequencing.

J Inherit Metab Dis 2018 05 25;41(3):525-532. Epub 2018 Jan 25.

Institute of Human Genetics, Technische Universität München, Trogerstrasse 32, 81675, Munich, Germany.

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http://dx.doi.org/10.1007/s10545-017-0133-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959960PMC
May 2018

Identification of Disease-Causing Mutations by Functional Complementation of Patient-Derived Fibroblast Cell Lines.

Methods Mol Biol 2017 ;1567:391-406

Institute of Human Genetics, Helmholtz Zentrum München, Ingolstaedter Landstr. 1, 85764, Neuherberg, Germany.

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http://dx.doi.org/10.1007/978-1-4939-6824-4_24DOI Listing
February 2018

Severe respiratory complex III defect prevents liver adaptation to prolonged fasting.

J Hepatol 2016 08 2;65(2):377-85. Epub 2016 May 2.

Inserm UMR 1016, Institut Cochin, Paris, France; CNRS UMR 8104, Institut Cochin, Paris, France; Université Paris V René Descartes, Institut Cochin, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jhep.2016.04.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5640785PMC
August 2016