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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2010 1
2011 6
2012 6
2013 4
2014 4
2015 5
2016 6
2017 5
2018 3
2019 4
2020 13
2021 19
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64 results
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Page 1
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, Huemer M, Hochuli M, Assoun M, Ballhausen D, Burlina A, Fowler B, Grünert SC, Grünewald S, Honzik T, Merinero B, Pérez-Cerdá C, Scholl-Bürgi S, Skovby F, Wijburg F, MacDonald A, Martinelli D, Sass JO, Valayannopoulos V, Chakrapani A. Baumgartner MR, et al. Among authors: grunert sc. Orphanet J Rare Dis. 2014 Sep 2;9:130. doi: 10.1186/s13023-014-0130-8. Orphanet J Rare Dis. 2014. PMID: 25205257 Free PMC article. Review.
Biomarkers and Algorithms for the Diagnosis of Vitamin B12 Deficiency.
Hannibal L, Lysne V, Bjørke-Monsen AL, Behringer S, Grünert SC, Spiekerkoetter U, Jacobsen DW, Blom HJ. Hannibal L, et al. Among authors: grunert sc. Front Mol Biosci. 2016 Jun 27;3:27. doi: 10.3389/fmolb.2016.00027. eCollection 2016. Front Mol Biosci. 2016. PMID: 27446930 Free PMC article. Review.
The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective.
Elmonem MA, Belanger-Quintana A, Bordugo A, Boruah R, Cortès-Saladelafont E, Endrakanti M, Giraldo P, Grünert SC, Gupta N, Kabra M, Knerr I, Krämer J, Kuster A, Levtchenko E, Ngu LH, Rovira-Remisa MM, Sass JO, Sykut-Cegielska J, Tummolo A, van den Heuvel LP. Elmonem MA, et al. Among authors: grunert sc. Mol Genet Metab. 2020 Nov;131(3):285-288. doi: 10.1016/j.ymgme.2020.09.004. Epub 2020 Sep 25. Mol Genet Metab. 2020. PMID: 33004274 Free PMC article.
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.
Grünert SC, Stucki M, Morscher RJ, Suormala T, Bürer C, Burda P, Christensen E, Ficicioglu C, Herwig J, Kölker S, Möslinger D, Pasquini E, Santer R, Schwab KO, Wilcken B, Fowler B, Yue WW, Baumgartner MR. Grünert SC, et al. Orphanet J Rare Dis. 2012 May 29;7:31. doi: 10.1186/1750-1172-7-31. Orphanet J Rare Dis. 2012. PMID: 22642865 Free PMC article.
Clinical presentation and proteomic signature of patients with TANGO2 mutations.
Mingirulli N, Pyle A, Hathazi D, Alston CL, Kohlschmidt N, O'Grady G, Waddell L, Evesson F, Cooper SBT, Turner C, Duff J, Topf A, Yubero D, Jou C, Nascimento A, Ortez C, García-Cazorla A, Gross C, O'Callaghan M, Santra S, Preece MA, Champion M, Korenev S, Chronopoulou E, Anirban M, Pierre G, McArthur D, Thompson K, Navas P, Ribes A, Tort F, Schlüter A, Pujol A, Montero R, Sarquella G, Lochmüller H, Jiménez-Mallebrera C, Taylor RW, Artuch R, Kirschner J, Grünert SC, Roos A, Horvath R. Mingirulli N, et al. Among authors: grunert sc. J Inherit Metab Dis. 2020 Mar;43(2):297-308. doi: 10.1002/jimd.12156. Epub 2019 Aug 13. J Inherit Metab Dis. 2020. PMID: 31339582 Free PMC article.
Citrin deficiency mimicking mitochondrial depletion syndrome.
Grünert SC, Schumann A, Freisinger P, Rosenbaum-Fabian S, Schmidts M, Mueller AJ, Beck-Wödl S, Haack TB, Schneider H, Fuchs H, Teufel U, Gramer G, Hannibal L, Spiekerkoetter U. Grünert SC, et al. BMC Pediatr. 2020 Nov 11;20(1):518. doi: 10.1186/s12887-020-02409-x. BMC Pediatr. 2020. PMID: 33176737 Free PMC article.
A newborn screening approach to diagnose 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
Václavík J, Mádrová L, Kouřil Š, de Sousa J, Brumarová R, Janečková H, Jáčová J, Friedecký D, Knapková M, Kluijtmans LAJ, Grünert SC, Vaz FM, Janzen N, Wanders RJA, Wevers RA, Adam T. Václavík J, et al. Among authors: grunert sc. JIMD Rep. 2020 Apr 14;54(1):79-86. doi: 10.1002/jmd2.12118. eCollection 2020 Jul. JIMD Rep. 2020. PMID: 32685354 Free PMC article.
Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn Screening.
Mütze U, Garbade SF, Gramer G, Lindner M, Freisinger P, Grünert SC, Hennermann J, Ensenauer R, Thimm E, Zirnbauer J, Leichsenring M, Gleich F, Hörster F, Grohmann-Held K, Boy N, Fang-Hoffmann J, Burgard P, Walter M, Hoffmann GF, Kölker S. Mütze U, et al. Among authors: grunert sc. Pediatrics. 2020 Nov;146(5):e20200444. doi: 10.1542/peds.2020-0444. Epub 2020 Oct 13. Pediatrics. 2020. PMID: 33051224
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