Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Ágnes Schuler"'
Publikováno v:
Journal of Inherited Metabolic Disease. 33:289-292
Biotinidase deficiency, an autosomal recessively inherited disorder, is characterized by neurologic and cutaneous symptoms and can be detected by newborn screening. In Hungary the national screening programme was launched in 1989 with two screening c
Publikováno v:
Molecular Genetics and Metabolism. 90:345-348
In Hungary the national newborn screening programme for the detection of biotinidase deficiency was launched in 1989. In this study, we determined the genotypes of all patients identified at the Budapest Screening Centre that covers half of the count
Autor:
Barna Vásárhelyi, Tivadar Tulassay, András Treszl, Erika Héninger, Attila Kálmán, Ágnes Schuler
Publikováno v:
Journal of Pediatric Surgery. 38:1374-1378
Background/purpose: Altered production of immunoregulatory cytokines is associated with the development of necrotizing enterocolitis (NEC) in preterm very low-birth-weight (VLBW) infants. According to data obtained in adults, functional genetic polym
Autor:
Miklós Szathmári, Barna Vásárhelyi, Erika Héninger, Tivadar Tulassay, István Kocsis, András Treszl, Ágnes Schuler
Publikováno v:
Neonatology. 83:241-245
The amount of inflammatory cytokines is a major determinant for the development of sepsis in very-low-birth-weight (VLBW) neonates. We investigated whether variants of tumor necrosis factor-α, interleukin (IL)-1β, IL-4 receptor α-chain, IL-6 and I
Autor:
Tivadar Tulassay, András Nobilis, Péter Tóth-Heyn, Barna Vásárhelyi, István Kocsis, András Treszl, Ágnes Schuler
Publikováno v:
Pediatric Nephrology. 17:713-717
Systemic infection is a major risk factor for the development of neonatal acute renal failure (ARF). We investigated whether genetic polymorphisms of tumor necrosis factor (TNF)-alpha, interleukin (IL)-1beta, IL-6, and IL-10 genes leading to a more i
Publikováno v:
Orvosi hetilap. 150(28)
A klasszikus galactosaemia autoszomális recesszív módon öröklődő anyagcsere-betegség, amelynek hátterében a galaktóz-1-foszfát-uridil-transzferáz (GALT) enzim defektusa áll. Hazánkban a betegséget az újszülöttkori tömegszűrés ke
Autor:
Flóra Fodor, György Fekete, Csilla Somogyi, Ilona Milánkovics, Ágnes Schuler, Enikő Kámory, Krisztina Németh, Béla Csókay
Publikováno v:
Wiener klinische Wochenschrift. 122(3-4)
BACKGROUND: Classic galactosemia is an autosomal recessively inherited disorder caused by deficient activity of the enzyme galactose-1-phosphate uridyltransferase. The disorder can be detected by newborn screening and in Hungary the national screenin
Autor:
Alberto Ponzone, Francesco Porta, Hans Ibel, Udo Wendel, René Santer, Matthias R. Baumgartner, Georg F. Hoffmann, Marcel R. Zurflüh, Nenad Blau, Leandra Jäggi, Marcello Giovannini, Ágnes Schuler, Diana Ballhausen, L. Fiori
Publikováno v:
Molecular genetics and metabolism. 93(3)
We describe the treatment, the clinical, and biochemical findings and the outcome of 26 patients with 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency and 10 patients with dihydropteridine reductase (DHPR) deficiency. These are the two most com
Publikováno v:
Aktuelle Ernährungsmedizin. 30
Publikováno v:
European Journal of Pediatrics. 155:S50-S52
Between 1975 and 1994 about 1.5 million neonates were screened by Guthrie tests at the phenylketonuria (PKU) Centre in Budapest. In this period 160 children with PKU were found. The corresponding incidence rate is about 1:9000. In a cumulative longit