Trefz FK - 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: trefz fk. Clin Chem. 2006 Mar;52(3):482-7. doi: 10.1373/clinchem.2005.059790. Epub 2006 Jan 26. Clin Chem. 2006. PMID: 16439608

2

Neonatal screening for citrullinaemia.

Sander J, Janzen N, Sander S, Steuerwald U, Das AM, Scholl S, Trefz FK, Koch HG, Häberle J, Korall H, Marquardt I, Korenke C. Sander J, et al. Among authors: trefz fk. Eur J Pediatr. 2003 Jun;162(6):417-20. doi: 10.1007/s00431-003-1177-z. Epub 2003 Apr 8. Eur J Pediatr. 2003. PMID: 12684898

3

Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysis.

Matern D, Strauss AW, Hillman SL, Mayatepek E, Millington DS, Trefz FK. Matern D, et al. Among authors: trefz fk. Pediatr Res. 1999 Jul;46(1):45-9. doi: 10.1203/00006450-199907000-00008. Pediatr Res. 1999. PMID: 10400133

4

Early clinical manifestation of glutaric aciduria type I and nephrotic syndrome during the first months of life.

Pöge AP, Autschbach F, Korall H, Trefz FK, Mayatepek E. Pöge AP, et al. Among authors: trefz fk. Acta Paediatr. 1997 Oct;86(10):1144-7. doi: 10.1111/j.1651-2227.1997.tb14827.x. Acta Paediatr. 1997. PMID: 9350903

5

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: trefz fk. Acta Paediatr. 2000 Apr;89(4):492-5. doi: 10.1080/080352500750028267. Acta Paediatr. 2000. PMID: 10830467 No abstract available.

6

Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation.

Schuelke M, Krude H, Finckh B, Mayatepek E, Janssen A, Schmelz M, Trefz F, Trijbels F, Smeitink J. Schuelke M, et al. Ann Neurol. 2002 Mar;51(3):388-92. doi: 10.1002/ana.10151. Ann Neurol. 2002. PMID: 11891837

7

Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany.

Lindner M, Gramer G, Haege G, Fang-Hoffmann J, Schwab KO, Tacke U, Trefz FK, Mengel E, Wendel U, Leichsenring M, Burgard P, Hoffmann GF. Lindner M, et al. Among authors: trefz fk. Orphanet J Rare Dis. 2011 Jun 20;6:44. doi: 10.1186/1750-1172-6-44. Orphanet J Rare Dis. 2011. PMID: 21689452 Free PMC article.

8

Atypical vitamin B12-unresponsive methylmalonic aciduria in sibship with severe progressive encephalomyelopathy: a new genetic disease?

Mayatepek E, Hoffmann GF, Baumgartner R, Schulze A, Jakobs C, Trefz FK, Bremer HJ. Mayatepek E, et al. Among authors: trefz fk. Eur J Pediatr. 1996 May;155(5):398-403. doi: 10.1007/BF01955272. Eur J Pediatr. 1996. PMID: 8741039

9

Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey.

van Wegberg AMJ, Trefz F, Gizewska M, Ahmed S, Chabraoui L, Zaki MS, Maillot F, van Spronsen FJ; Study Group on Missed PKU and Missed to Follow-Up. van Wegberg AMJ, et al. J Pediatr. 2021 Dec;239:231-234.e2. doi: 10.1016/j.jpeds.2021.08.070. Epub 2021 Aug 30. J Pediatr. 2021. PMID: 34474089 Free article.

10

Genotype-phenotype correlations in phenylketonuria.

Trefz FK, Burgard P, König T, Goebel-Schreiner B, Lichter-Konecki U, Konecki D, Schmidt E, Schmidt H, Bickel H. Trefz FK, et al. Clin Chim Acta. 1993 Jul 30;217(1):15-21. doi: 10.1016/0009-8981(93)90233-t. Clin Chim Acta. 1993. PMID: 8222278

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