Schwahn B - Search Results

1

Newborn screening for hepatorenal tyrosinemia: Tandem mass spectrometric quantification of succinylacetone.

Sander J, Janzen N, Peter M, Sander S, Steuerwald U, Holtkamp U, Schwahn B, Mayatepek E, Trefz FK, Das AM. Sander J, et al. Among authors: schwahn b. Clin Chem. 2006 Mar;52(3):482-7. doi: 10.1373/clinchem.2005.059790. Epub 2006 Jan 26. Clin Chem. 2006. PMID: 16439608

2

Propionic acidemia revisited: a workshop report.

Sass JO, Hofmann M, Skladal D, Mayatepek E, Schwahn B, Sperl W. Sass JO, et al. Among authors: schwahn b. Clin Pediatr (Phila). 2004 Nov-Dec;43(9):837-43. doi: 10.1177/000992280404300908. Clin Pediatr (Phila). 2004. PMID: 15583780

3

Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: monitoring of treatment by carnitine/acylcarnitine analysis in blood spots.

Spiekerkötter U, Schwahn B, Korall H, Trefz FK, Andresen BS, Wendel U. Spiekerkötter U, et al. Among authors: schwahn b. Acta Paediatr. 2000 Apr;89(4):492-5. doi: 10.1080/080352500750028267. Acta Paediatr. 2000. PMID: 10830467 No abstract available.

4

Severe hyperhomocysteinaemia and 5-oxoprolinuria secondary to antiproliferative and antimicrobial drug treatment.

Schwahn B, Kameda G, Wessalowski R, Mayatepek E. Schwahn B, et al. J Inherit Metab Dis. 2005;28(1):99-102. doi: 10.1007/s10545-005-5084-5. J Inherit Metab Dis. 2005. PMID: 15702411

5

Osmotic regulation of hepatic betaine metabolism.

Hoffmann L, Brauers G, Gehrmann T, Häussinger D, Mayatepek E, Schliess F, Schwahn BC. Hoffmann L, et al. Am J Physiol Gastrointest Liver Physiol. 2013 May 1;304(9):G835-46. doi: 10.1152/ajpgi.00332.2012. Epub 2013 Feb 28. Am J Physiol Gastrointest Liver Physiol. 2013. PMID: 23449672 Free article.

6

Glycogen storage disease type Ib without hypoglycemia.

Kovacevic A, Ehrlich R, Mayatepek E, Wendel U, Schwahn B. Kovacevic A, et al. Among authors: schwahn b. Mol Genet Metab. 2007 Mar;90(3):349-50. doi: 10.1016/j.ymgme.2006.11.002. Epub 2006 Dec 14. Mol Genet Metab. 2007. PMID: 17174133 No abstract available.

7

Acute neuronopathic Gaucher disease complicated by fatal gastrointestinal bleeding.

Hoffmann B, Schwahn B, Knobbe CB, Vogel M, Blohm M, Mayatepek E, Wendel U. Hoffmann B, et al. Among authors: schwahn b. Neuropediatrics. 2006 Jun;37(3):163-5. doi: 10.1055/s-2006-924556. Neuropediatrics. 2006. PMID: 16967369

8

Osmotic regulation of betaine homocysteine-S-methyltransferase expression in H4IIE rat hepatoma cells.

Schäfer C, Hoffmann L, Heldt K, Lornejad-Schäfer MR, Brauers G, Gehrmann T, Garrow TA, Häussinger D, Mayatepek E, Schwahn BC, Schliess F. Schäfer C, et al. Am J Physiol Gastrointest Liver Physiol. 2007 Apr;292(4):G1089-98. doi: 10.1152/ajpgi.00088.2006. Epub 2007 Jan 11. Am J Physiol Gastrointest Liver Physiol. 2007. PMID: 17218476 Free article.

9

Cystic renal dysplasia as a leading sign of inherited metabolic disease.

Distelmaier F, Vogel M, Spiekerkötter U, Gempel K, Klee D, Braunstein S, Groneck HP, Mayatepek E, Wendel U, Schwahn B. Distelmaier F, et al. Among authors: schwahn b. Pediatr Nephrol. 2007 Dec;22(12):2119-24. doi: 10.1007/s00467-007-0536-9. Epub 2007 Jul 19. Pediatr Nephrol. 2007. PMID: 17638024

10

Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence.

Schwahn BC, Scheffner T, Stepman H, Verloo P, Das AM, Fletcher J, Blom HJ, Benoist JF, Barshop BA, Barea JJ, Feigenbaum A. Schwahn BC, et al. JIMD Rep. 2020 Jan 8;52(1):3-10. doi: 10.1002/jmd2.12092. eCollection 2020 Mar. JIMD Rep. 2020. PMID: 32154053 Free PMC article.

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