Melegh B - Search Results

1

Cloning, sequencing, structural and molecular biological characterization of placental protein 20 (PP20)/human thiamin pyrophosphokinase (hTPK).

Bellyei S, Szigeti A, Boronkai A, Szabo Z, Bene J, Janaky T, Barna L, Sipos K, Minik O, Kravjak A, Ohmacht R, Melegh B, Zavodszky P, Than GN, Sumegi B, Bohn H, Than NG. Bellyei S, et al. Among authors: melegh b. Placenta. 2005 Jan;26(1):34-46. doi: 10.1016/j.placenta.2004.03.008. Placenta. 2005. PMID: 15664409

2

Cytochrome oxidase deficiency affecting the structure of the myofibre and the shape of mitochondrial cristae membrane.

Sumegi B, Melegh B, Adamovich K, Trombitas K. Sumegi B, et al. Among authors: melegh b. Clin Chim Acta. 1990 Nov 15;192(1):9-18. doi: 10.1016/0009-8981(90)90266-u. Clin Chim Acta. 1990. PMID: 2175684

3

Preferential elimination of pivalate with supplemental carnitine via formation of pivaloylcarnitine in man.

Melegh B, Sumegi B, Sherry AD. Melegh B, et al. Xenobiotica. 1993 Nov;23(11):1255-61. doi: 10.3109/00498259309059436. Xenobiotica. 1993. PMID: 8310709

4

Increased prevalence of glycoprotein IIb/IIIa Leu33Pro polymorphism in term infants with grade I intracranial haemorrhage.

Havasi V, Komlósi K, Bene J, Melegh B. Havasi V, et al. Among authors: melegh b. Neuropediatrics. 2006 Apr;37(2):67-71. doi: 10.1055/s-2006-923980. Neuropediatrics. 2006. PMID: 16773503

5

Sequence heterogeneity among human picobirnaviruses detected in a gastroenteritis outbreak.

Bányai K, Jakab F, Reuter G, Bene J, Uj M, Melegh B, Szücs G. Bányai K, et al. Among authors: melegh b. Arch Virol. 2003 Dec;148(12):2281-91. doi: 10.1007/s00705-003-0200-z. Epub 2003 Sep 19. Arch Virol. 2003. PMID: 14648286

6

Increased prevalence of factor V Leiden mutation in premature but not in full-term infants with grade I intracranial haemorrhage.

Komlósi K, Havasi V, Bene J, Storcz J, Stankovics J, Mohay G, Weisenbach J, Kosztolányi G, Melegh B. Komlósi K, et al. Among authors: melegh b. Biol Neonate. 2005;87(1):56-9. doi: 10.1159/000081244. Epub 2004 Sep 30. Biol Neonate. 2005. PMID: 15467293

7

Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma.

Schrauwen I, Melegh BI, Chakchouk I, Acharya A, Nasir A, Poston A, Cornejo-Sanchez DM, Szabo Z, Karosi T, Bene J, Melegh B, Leal SM. Schrauwen I, et al. Among authors: melegh b, melegh bi. Eur J Hum Genet. 2019 Jun;27(6):869-878. doi: 10.1038/s41431-019-0372-y. Epub 2019 Mar 14. Eur J Hum Genet. 2019. PMID: 30872814 Free PMC article. Clinical Trial.

8

Autoantibodies against subunits of pyruvate dehydrogenase and citrate synthase in a case of paediatric biliary cirrhosis.

Melegh B, Skuta G, Pajor L, Hegedüs G, Sumegi B. Melegh B, et al. Gut. 1998 May;42(5):753-6. doi: 10.1136/gut.42.5.753. Gut. 1998. PMID: 9659176 Free PMC article.

9

Muscle carnitine acetyltransferase and carnitine deficiency in a case of mitochondrial encephalomyopathy.

Melegh B, Seress L, Bedekovics T, Kispál G, Sümegi B, Trombitás K, Méhes K. Melegh B, et al. J Inherit Metab Dis. 1999 Oct;22(7):827-38. doi: 10.1023/a:1005562209034. J Inherit Metab Dis. 1999. PMID: 10518284

10

Carnitine-responsive carnitine insufficiency in a case of mtDNA 8993T>C mutation associated Leigh syndrome.

Tóth G, Morava E, Bene J, Selhorst JJ, Overmars H, Vreken P, Molnár J, Farkas V, Melegh B. Tóth G, et al. Among authors: melegh b. J Inherit Metab Dis. 2001 Jun;24(3):421-2. doi: 10.1023/a:1010537527291. J Inherit Metab Dis. 2001. PMID: 11486914 No abstract available.

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