Spiekerkoetter U - Search Results

1

MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency.

Spiekerkoetter U, Sun B, Zytkovicz T, Wanders R, Strauss AW, Wendel U. Spiekerkoetter U, et al. J Pediatr. 2003 Sep;143(3):335-42. doi: 10.1067/S0022-3476(03)00292-0. J Pediatr. 2003. PMID: 14517516

2

Genomic newborn screening: Are we entering a new era of screening?

Spiekerkoetter U, Bick D, Scott R, Hopkins H, Krones T, Gross ES, Bonham JR. Spiekerkoetter U, et al. J Inherit Metab Dis. 2023 Sep;46(5):778-795. doi: 10.1002/jimd.12650. Epub 2023 Jul 17. J Inherit Metab Dis. 2023. PMID: 37403863 Review.

3

Severe loss of appetite and refusal to eat as severe side effect of glycerol phenylbutyrate.

Grünert SC, Schumann A, Spiekerkoetter U. Grünert SC, et al. Among authors: spiekerkoetter u. JIMD Rep. 2022 Sep 30;63(6):521-523. doi: 10.1002/jmd2.12286. eCollection 2022 Nov. JIMD Rep. 2022. PMID: 36341170 Free PMC article.

4

SSIEM 2022 Annual Symposium in Freiburg, Germany.

Spiekerkoetter U. Spiekerkoetter U. J Inherit Metab Dis. 2023 Sep;46(5):759-760. doi: 10.1002/jimd.12670. Epub 2023 Aug 25. J Inherit Metab Dis. 2023. PMID: 37565584 No abstract available.

5

Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment.

Mütze U, Henze L, Schröter J, Gleich F, Lindner M, Grünert SC, Spiekerkoetter U, Santer R, Thimm E, Ensenauer R, Weigel J, Beblo S, Arélin M, Hennermann JB, Marquardt I, Freisinger P, Krämer J, Dieckmann A, Weinhold N, Schiergens KA, Maier EM, Hoffmann GF, Garbade SF, Kölker S. Mütze U, et al. Among authors: spiekerkoetter u. J Inherit Metab Dis. 2023 Nov;46(6):1063-1077. doi: 10.1002/jimd.12653. Epub 2023 Jul 23. J Inherit Metab Dis. 2023. PMID: 37429829

6

The impact of metabolic stressors on mitochondrial homeostasis in a renal epithelial cell model of methylmalonic aciduria.

Schumann A, Brutsche M, Havermans M, Grünert SC, Kölker S, Groß O, Hannibal L, Spiekerkoetter U. Schumann A, et al. Among authors: spiekerkoetter u. Sci Rep. 2023 May 11;13(1):7677. doi: 10.1038/s41598-023-34373-8. Sci Rep. 2023. PMID: 37169781 Free PMC article.

7

General screening for celiac disease is advisable in children with type 1 diabetes.

Spiekerkoetter U, Seissler J, Wendel U. Spiekerkoetter U, et al. Horm Metab Res. 2002 Apr;34(4):192-5. doi: 10.1055/s-2002-26709. Horm Metab Res. 2002. PMID: 11987028

8

Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations.

Spiekerkoetter U, Eeds A, Yue Z, Haines J, Strauss AW, Summar M. Spiekerkoetter U, et al. Hum Mutat. 2002 Dec;20(6):447-51. doi: 10.1002/humu.10142. Hum Mutat. 2002. PMID: 12442268

9

Cardiomyopathy and pericardial effusion in infancy point to a fatty acid b-oxidation defect after exclusion of an underlying infection.

Spiekerkoetter U, Tenenbaum T, Heusch A, Wendel U. Spiekerkoetter U, et al. Pediatr Cardiol. 2003 May-Jun;24(3):295-7. doi: 10.1007/s00246-002-0277-2. Epub 2002 Dec 4. Pediatr Cardiol. 2003. PMID: 12457256

10

Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations.

Spiekerkoetter U, Sun B, Khuchua Z, Bennett MJ, Strauss AW. Spiekerkoetter U, et al. Hum Mutat. 2003 Jun;21(6):598-607. doi: 10.1002/humu.10211. Hum Mutat. 2003. PMID: 12754706

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