Endreffy E - Search Results

1

Acid glycosaminoglycan (aGAG) excretion is increased in children with autism spectrum disorder, and it can be controlled by diet.

Endreffy I, Bjørklund G, Dicső F, Urbina MA, Endreffy E. Endreffy I, et al. Among authors: endreffy e. Metab Brain Dis. 2016 Apr;31(2):273-8. doi: 10.1007/s11011-015-9745-2. Epub 2015 Oct 14. Metab Brain Dis. 2016. PMID: 26464064

2

Plasma alpha-L-fucosidase activity in chronic inflammation and autoimmune disorders in a pediatric cohort of hospitalized patients.

Endreffy I, Bjørklund G, Szerafin L, Chirumbolo S, Urbina MA, Endreffy E. Endreffy I, et al. Among authors: endreffy e. Immunol Res. 2017 Oct;65(5):1025-1030. doi: 10.1007/s12026-017-8943-x. Immunol Res. 2017. PMID: 28808940

3

Neonatal screening for biotinidase deficiency in Hungary: clinical, biochemical and molecular studies.

László A, Schuler EA, Sallay E, Endreffy E, Somogyi C, Várkonyi A, Havass Z, Jansen KP, Wolf B. László A, et al. Among authors: endreffy e. J Inherit Metab Dis. 2003;26(7):693-8. doi: 10.1023/b:boli.0000005622.89660.59. J Inherit Metab Dis. 2003. PMID: 14707518

4

Impact of single nucleotide polymorphisms of cytarabine metabolic genes on drug toxicity in childhood acute lymphoblastic leukemia.

Gabor KM, Schermann G, Lautner-Csorba O, Rarosi F, Erdelyi DJ, Endreffy E, Berek K, Bartyik K, Bereczki C, Szalai C, Semsei AF. Gabor KM, et al. Among authors: endreffy e. Pediatr Blood Cancer. 2015 Apr;62(4):622-8. doi: 10.1002/pbc.25379. Epub 2015 Jan 3. Pediatr Blood Cancer. 2015. PMID: 25557962 Free article.

5

Haplotype analysis of the apolipoprotein A5 gene in obese pediatric patients.

Horvatovich K, Bokor S, Baráth A, Maász A, Kisfali P, Járomi L, Polgár N, Tóth D, Répásy J, Endreffy E, Molnár D, Melegh B. Horvatovich K, et al. Among authors: endreffy e. Int J Pediatr Obes. 2011 Jun;6(2-2):e318-25. doi: 10.3109/17477166.2010.490268. Epub 2010 Sep 30. Int J Pediatr Obes. 2011. PMID: 20883102

6

Mutation analysis of alpha-galactosidase a gene in Hungarian Fabry patients.

László A, Török L, Raffai S, Török E, Sallay E, Endreffy E, Morvai L, van Amstel JK. László A, et al. Among authors: endreffy e. Ideggyogy Sz. 2012 Jan 30;65(1-2):35-9. Ideggyogy Sz. 2012. PMID: 22338844

7

Allele frequencies of cystic fibrosis-linked markers and F508 deletion in affected Hungarian families.

Endreffy E, Burg K, Gyurkovits K, Kálmán M, László A, Raskó I. Endreffy E, et al. Acta Paediatr Hung. 1992;32(2):101-13. Acta Paediatr Hung. 1992. PMID: 1356379

8

Coeliac disease: always something to discover.

Várkonyi A, Boda M, Endreffy E, Németh I, Timár E. Várkonyi A, et al. Among authors: endreffy e. Scand J Gastroenterol Suppl. 1998;228:122-9. doi: 10.1080/003655298750026651. Scand J Gastroenterol Suppl. 1998. PMID: 9867122

9

Molecular genetic mutation analysis in Menkes-disease with prenatal diagnosis.

László A, Endreffy E, Tümer Z, Horn N, Szabó J. László A, et al. Among authors: endreffy e. Ideggyogy Sz. 2010 Jan 30;63(1-2):48-51. Ideggyogy Sz. 2010. PMID: 20420124

10

Deletion patterns of dystrophin gene in Hungarian patients with Duchenne/Becker muscular dystrophies.

Herczegfalvi A, Tóth G, Gyürüs P, Morava E, Endreffy E, Fodor F, Mechler F, László A, Raskó I, Melegh B. Herczegfalvi A, et al. Among authors: endreffy e. Neuromuscul Disord. 1999 Dec;9(8):552-4. doi: 10.1016/s0960-8966(99)00044-9. Neuromuscul Disord. 1999. PMID: 10619712

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