Mayatepek E - Search Results

1

Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype.

Weston BW, Lin JL, Muenzer J, Cameron HS, Arnold RR, Seydewitz HH, Mayatepek E, Van Schaftingen E, Veiga-da-Cunha M, Matern D, Chen YT. Weston BW, et al. Among authors: mayatepek e. Pediatr Res. 2000 Sep;48(3):329-34. doi: 10.1203/00006450-200009000-00011. Pediatr Res. 2000. PMID: 10960498

2

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: mayatepek e. Pediatr Res. 1999 Jul;46(1):45-9. doi: 10.1203/00006450-199907000-00008. Pediatr Res. 1999. PMID: 10400133

3

Liver cirrhosis in glycogen storage disease Ib.

Baertling F, Mayatepek E, Gerner P, Baba HA, Franzel J, Schlune A, Meissner T. Baertling F, et al. Among authors: mayatepek e. Mol Genet Metab. 2013 Mar;108(3):198-200. doi: 10.1016/j.ymgme.2013.01.003. Epub 2013 Jan 11. Mol Genet Metab. 2013. PMID: 23357201

4

Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins.

Jaeken J, Artigas J, Barone R, Fiumara A, de Koning TJ, Poll-The BT, de Rijk-van Andel JF, Hoffmann GF, Assmann B, Mayatepek E, Pineda M, Vilaseca MA, Saudubray JM, Schlüter B, Wevers R, Van Schaftingen E. Jaeken J, et al. Among authors: mayatepek e. J Inherit Metab Dis. 1997 Jul;20(3):447-9. doi: 10.1023/a:1005331523477. J Inherit Metab Dis. 1997. PMID: 9266378 Clinical Trial. No abstract available.

5

Molecular genetics of type 1 glycogen storage disease.

Janecke AR, Mayatepek E, Utermann G. Janecke AR, et al. Among authors: mayatepek e. Mol Genet Metab. 2001 Jun;73(2):117-25. doi: 10.1006/mgme.2001.3179. Mol Genet Metab. 2001. PMID: 11386847 Review.

6

Mutation analysis in glycogen storage disease type 1 non-a.

Janecke AR, Lindner M, Erdel M, Mayatepek E, Möslinger D, Podskarbi T, Fresser F, Stöckler-Ipsiroglu S, Hoffmann GF, Utermann G. Janecke AR, et al. Among authors: mayatepek e. Hum Genet. 2000 Sep;107(3):285-9. doi: 10.1007/s004390000371. Hum Genet. 2000. PMID: 11071391

7

Leukotrienes: biosynthesis, metabolism, and pathophysiologic significance.

Mayatepek E, Hoffmann GF. Mayatepek E, et al. Pediatr Res. 1995 Jan;37(1):1-9. doi: 10.1203/00006450-199501000-00001. Pediatr Res. 1995. PMID: 7700722 Free PMC article. Review. No abstract available.

8

Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice.

Spiekerkoetter U, Tokunaga C, Wendel U, Mayatepek E, Ijlst L, Vaz FM, van Vlies N, Overmars H, Duran M, Wijburg FA, Wanders RJ, Strauss AW. Spiekerkoetter U, et al. Among authors: mayatepek e. Pediatr Res. 2005 Jun;57(6):760-4. doi: 10.1203/01.PDR.0000157915.26049.47. Epub 2005 Mar 17. Pediatr Res. 2005. PMID: 15774826

9

12- and 15-hydroxyeicosatetraenoic acid are excreted in the urine of peroxisome-deficient patients: evidence for peroxisomal metabolism in vivo.

Mayatepek E, Lehmann WD. Mayatepek E, et al. Pediatr Res. 1996 Jan;39(1):146-9. doi: 10.1203/00006450-199601000-00022. Pediatr Res. 1996. PMID: 8825400

10

Molecular diagnosis of type 1c glycogen storage disease.

Janecke AR, Bosshard NU, Mayatepek E, Schulze A, Gitzelmann R, Burchell A, Bartram CR, Janssen B. Janecke AR, et al. Among authors: mayatepek e. Hum Genet. 1999 Mar;104(3):275-7. doi: 10.1007/s004390050948. Hum Genet. 1999. PMID: 10323254

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