Grünert SC - Search Results

1

A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome.

Schüle I, Berger U, Matysiak U, Ruzaike G, Stiller B, Pohl M, Spiekerkoetter U, Lausch E, Grünert SC, Schmidts M. Schüle I, et al. Among authors: grunert sc. Genes (Basel). 2021 Jun 7;12(6):879. doi: 10.3390/genes12060879. Genes (Basel). 2021. PMID: 34200361 Free PMC article.

2

D-lactic acidosis: "right-left disorientation" in laboratory testing: acute encephalopathy in a child with carbohydrate malabsorption syndrome.

Grünert S, Schmidts M, Kenzel S, Sass JO, Greiner P, Pohl M, Hentschel R. Grünert S, et al. J Pediatr Gastroenterol Nutr. 2010 Jan;50(1):106-7. doi: 10.1097/MPG.0b013e3181c48cde. J Pediatr Gastroenterol Nutr. 2010. PMID: 20035183 No abstract available.

3

Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype.

Grünert SC, Schwab KO, Pohl M, Sass JO, Santer R. Grünert SC, et al. Mol Genet Metab. 2012 Mar;105(3):433-7. doi: 10.1016/j.ymgme.2011.11.200. Epub 2011 Dec 8. Mol Genet Metab. 2012. PMID: 22214819

4

Congenital Central Hypothyroidism due to a Homozygous Mutation in the TSHβ Subunit Gene.

Grünert SC, Schmidts M, Pohlenz J, Kopp MV, Uhl M, Schwab KO. Grünert SC, et al. Case Rep Pediatr. 2011;2011:369871. doi: 10.1155/2011/369871. Epub 2011 Dec 21. Case Rep Pediatr. 2011. PMID: 22606512 Free PMC article.

5

Reversible pancytopenia and immunodeficiency in a patient with hereditary folate malabsorption.

Erlacher M, Grünert SC, Cseh A, Steinfeld R, Salzer U, Lausch E, Nosswitz U, Dückers G, Niehues T, Ehl S, Niemeyer CM, Speckmann C. Erlacher M, et al. Among authors: grunert sc. Pediatr Blood Cancer. 2015 Jun;62(6):1091-4. doi: 10.1002/pbc.25364. Epub 2014 Dec 11. Pediatr Blood Cancer. 2015. PMID: 25504888

6

Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening.

Grünert SC, Wehrle A, Villavicencio-Lorini P, Lausch E, Vetter B, Schwab KO, Tucci S, Spiekerkoetter U. Grünert SC, et al. BMC Med Genet. 2015 Jul 30;16:56. doi: 10.1186/s12881-015-0199-5. BMC Med Genet. 2015. PMID: 26223887 Free PMC article.

7

Against all odds: blended phenotypes of three single-gene defects.

Li Y, Salfelder A, Schwab KO, Grünert SC, Velten T, Lütjohann D, Villavicencio-Lorini P, Matysiak-Scholze U, Zabel B, Köttgen A, Lausch E. Li Y, et al. Among authors: grunert sc. Eur J Hum Genet. 2016 Aug;24(9):1274-9. doi: 10.1038/ejhg.2015.285. Epub 2016 Jan 27. Eur J Hum Genet. 2016. PMID: 26813946 Free PMC article.

8

Mechanisms of acquired long QT syndrome in patients with propionic academia.

Bodi I, Grünert SC, Becker N, Stoelzle-Feix S, Spiekerkoetter U, Zehender M, Bugger H, Bode C, Odening KE. Bodi I, et al. Among authors: grunert sc. Heart Rhythm. 2016 Jun;13(6):1335-45. doi: 10.1016/j.hrthm.2016.02.003. Epub 2016 Feb 27. Heart Rhythm. 2016. PMID: 26854997

9

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.

10

Successful pregnancy in maple syrup urine disease: a case report and review of the literature.

Grünert SC, Rosenbaum-Fabian S, Schumann A, Schwab KO, Mingirulli N, Spiekerkoetter U. Grünert SC, et al. Nutr J. 2018 May 12;17(1):51. doi: 10.1186/s12937-018-0357-7. Nutr J. 2018. PMID: 29753318 Free PMC article. Review.

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