Mayatepek E - Search Results

1

Hyperinsulinemic Hypoglycemia Associated with a Ca_V1.2 Variant with Mixed Gain- and Loss-of-Function Effects.

Kummer S, Rinné S, Seemann G, Bachmann N, Timothy K, Thornton PS, Pillekamp F, Mayatepek E, Bergmann C, Meissner T, Decher N. Kummer S, et al. Among authors: mayatepek e. Int J Mol Sci. 2022 Jul 22;23(15):8097. doi: 10.3390/ijms23158097. Int J Mol Sci. 2022. PMID: 35897673 Free PMC article.

2

Sarcosinaemia in a patient with severe progressive neurological damage and hypertrophic cardiomyopathy.

Meissner T, Mayatepek E. Meissner T, et al. Among authors: mayatepek e. J Inherit Metab Dis. 1997 Sep;20(5):717-8. doi: 10.1023/a:1005347114782. J Inherit Metab Dis. 1997. PMID: 9323574 No abstract available.

3

Persistent hyperinsulinaemic hypoglycaemia of infancy: therapy, clinical outcome and mutational analysis.

Meissner T, Brune W, Mayatepek E. Meissner T, et al. Among authors: mayatepek e. Eur J Pediatr. 1997 Oct;156(10):754-7. doi: 10.1007/s004310050706. Eur J Pediatr. 1997. PMID: 9365062

4

Congenital hyperinsulinism: molecular basis of a heterogeneous disease.

Meissner T, Beinbrech B, Mayatepek E. Meissner T, et al. Among authors: mayatepek e. Hum Mutat. 1999;13(5):351-61. doi: 10.1002/(SICI)1098-1004(1999)13:5<351::AID-HUMU3>3.0.CO;2-R. Hum Mutat. 1999. PMID: 10338089 Review.

5

Recurrent excessive transient hypertriglyceridaemia.

Meissner T, Mayatepek E. Meissner T, et al. Among authors: mayatepek e. Eur J Pediatr. 1999 Aug;158(8):683. doi: 10.1007/s004310051176. Eur J Pediatr. 1999. PMID: 10445351 No abstract available.

6

Exercise induced hypoglycaemic hyperinsulinism.

Meissner T, Otonkoski T, Feneberg R, Beinbrech B, Apostolidou S, Sipilä I, Schaefer F, Mayatepek E. Meissner T, et al. Among authors: mayatepek e. Arch Dis Child. 2001 Mar;84(3):254-7. doi: 10.1136/adc.84.3.254. Arch Dis Child. 2001. PMID: 11207177 Free PMC article.

7

Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome.

Santer R, Kinner M, Passarge M, Superti-Furga A, Mayatepek E, Meissner T, Schneppenheim R, Schaub J. Santer R, et al. Among authors: mayatepek e. Hum Genet. 2001 Jan;108(1):66-71. doi: 10.1007/s004390000432. Hum Genet. 2001. PMID: 11214910

8

Hyperinsulinism in syndromal disorders.

Meissner T, Rabl W, Mohnike K, Scholl S, Santer R, Mayatepek E. Meissner T, et al. Among authors: mayatepek e. Acta Paediatr. 2001 Aug;90(8):856-9. Acta Paediatr. 2001. PMID: 11529530

9

Clinical and genetic heterogeneity in congenital hyperinsulinism.

Meissner T, Mayatepek E. Meissner T, et al. Among authors: mayatepek e. Eur J Pediatr. 2002 Jan;161(1):6-20. doi: 10.1007/s004310100850. Eur J Pediatr. 2002. PMID: 11808881 Review.

10

Identification of the peroxisomal beta-oxidation enzymes involved in the degradation of leukotrienes.

Ferdinandusse S, Meissner T, Wanders RJ, Mayatepek E. Ferdinandusse S, et al. Among authors: mayatepek e. Biochem Biophys Res Commun. 2002 Apr 26;293(1):269-73. doi: 10.1016/S0006-291X(02)00214-0. Biochem Biophys Res Commun. 2002. PMID: 12054595

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