Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Laszlo Szonyi"'
Autor:
Gabriella Miklossy, Aydan Kansu, Laszlo Szonyi, John R. Jimah, Craig C Grossman, Miguel Beckford, Ryan Kelly, Sanjay K. Banerjee, Zarife Kuloğlu, William E. Lee, Katalin Banki, Brian Niland, Zachary Oaks, Andras Perl
Publikováno v:
Journal of Inherited Metabolic Disease
Transaldolase (TAL) is an enzyme in the pentose phosphate pathway (PPP) that generates NADPH for protection against oxidative stress. While deficiency of other PPP enzymes, such as transketolase (TKT), are incompatible with mammalian cell survival, m
Autor:
Jennifer C Burgis, Gill Levitt, Melissa M. Hudson, Daniel M. Green, Renée L. Mulder, W. Hamish B. Wallace, Laszlo Szonyi, Edit Bardi, Caroline M. den Hoed, Sharon M. Castellino, Roderick Skinner, Leontien C. M. Kremer, Bart G.P. Koot, Neel S. Bhatt, Karen E. Effinger, Louis S. Constine, Dorine Bresters, Kathy A. Ruble, Elvira C. van Dalen
Publikováno v:
Cancer treatment reviews. 100
Background Survivors of childhood, adolescent and young adult (CAYA) cancer may develop treatment-induced chronic liver disease. Surveillance guidelines can improve survivors’ health outcomes. However, current recommendations vary, leading to uncer
Autor:
Hesham Aldhalaan, Hana Akleh, Saeed Bohlega, Imaduddin Kanaan, Fathiya Al-Murshedi, Sarar Mohamed, Mohammed AlQuaiz, Mohammad Shagrani, Fahad A. Bashiri, Fowzan S. Alkuraya, Banan Al-Younes, Saif Alshahrani, Maha Alotaibi, Saeed Hassan, Amal Alqassmi, Farrukh Sheikh, Fahad I. Alsohaibani, Edward Cupler, Saad AlShahwan, Majid Alfadhel, Dalal K. Bubshait, Aziza Chedrawi, Hamad Al-Mojalli, Adila Al-Kindy, Amal Alhashem, Mohammad A. Al-Muhaizea, Shamshad Gulab, Khalid Alsaleem, Maisoon Almugbel, Dorota Monies, Faisal Abaalkhail, Ahmed S Alenizi, Suad Alyamani, Abeer Al-Saegh, Ayaz Shah, Dyala Jaroudi, Khalid S. Alqadi, Maha Alnemer, Tariq Faquih, Renad Albar, Khalid Al-Thihli, Heba Y. El Khashab, Sulaiman M. Al-Mayouf, Moayad El-Haj, Brian F. Meyer, Hasan Al-Dhekri, Ibraheem F. Abosoudah, Zuhair Rahbeeni, A. Al-Ghonaium, Alya Qari, Asma Akilan, Mohammed Al-Owain, Nabil Moghrabi, Hamoud Al-Mousa, Amira Oshi, Taghreed Shuaib, Maha Faden, M. Al-Sebayel, Maha Tulbah, Ali Al-Mehaidib, Shazia Subhani, Raashda A Sulaiman, Wesam Kurdi, Hisham Alkuraya, Abdulaziz Al-Saman, Abdullah Alshanbary, Saeed Al Tala, Mustafa A. Salih, Wajeeh Aldekhail, Mohamed El-Kalioby, Zeeshan Shah, Mohammed Zain Seidahmed, Zuhair N. Al-Hassnan, Yasser Sabr, Tahani Alqasim, Moeenaldeen Al-Sayed, Abdullah Alsonbul, Hussien Elsiesy, Rand Arnaout, Saad Alsaadoun, Muddathir H. Hamad, Brahim Tabarki, Sami Al-Hajjar, Randa Bassiouni, Maged H. Hussein, Dieter C. Broering, Soher Balkhy, Abdullah Tamim, Mohamed Abouelhoda, Talal Algoufi, Nawal Makhseed, Ewa Goljan, Turki M. Alkharfy, Talal A. Basha, Bandar K. Al Saud, Eissa Faqeih, Hamad Al-Zaidan, Laszlo Szonyi, Husam R. Kayyali, Habiba Sultana, Suzan Alhomadi, Hadeel Elbardisy, Omar Dabbagh, Wafa Eyaid, Fuad Al Mutairi, Sameena Khan, Mohamed Ibrahim Khalil
Publikováno v:
Human Genetics
In this study, we report the experience of the only reference clinical next-generation sequencing lab in Saudi Arabia with the first 1000 families who span a wide-range of suspected Mendelian phenotypes. A total of 1019 tests were performed in the pe
Autor:
C. Willheim-Polli, M. Abonyi, Ferenc Szalay, Andrea Horváth, Peter L. Lakatos, Janos Osztovits, Dalma Hegedus, Laszlo Szonyi, Gábor Firneisz, Peter Ferenci, Timea Csak, Anikó Folhoffer, János P. Kósa
Publikováno v:
European Journal of Gastroenterology & Hepatology. 19:105-111
Background/aims Diagnosis of Wilson's disease may be difficult in patients presenting with liver disease and in asymptomatic siblings. The aim of the present study was to assess the impact of genetic testing for diagnosis of the disease in a large co
Autor:
Laszlo Szonyi, István Kocsis, Barna Vásárhelyi, Bodánszky H, András Arató, Antal Szabó, Tivadar Tulassay
Publikováno v:
Calcified Tissue International. 71:129-132
Gastric proton pump inhibitors are widely used in the treatment of dyspeptic problems and for the eradication of H. pylori infection. Data are not available on whether omeprazole, a representative of proton pump inhibitors, influences the function of
Publikováno v:
Europe PubMed Central
Scopus-Elsevier
Scopus-Elsevier
BACKGROUND The transjugular intrahepatic portosystemic shunt (TIPS) is widely used for the treatment of portal hypertension in adults, but no studies have defined the best approach to treat portal hypertension in pediatric patients. Pediatric use of
Publikováno v:
Journal of inherited metabolic disease. 28(6)
We performed mutation analysis in 12 Hungarian type I glycogen storage disease (GSD I) patients in order to determine the mutation spectrum. All patients were clinically classified as GSD Ia. Nine patients carried biallelic G6PC mutations (p.Q27fsX35
Publikováno v:
Clinical nephrology. 62(6)
Background: α 1 -antitrypsin (AAT) is the main protease inhibitor in the blood. Several different AAT phenotypes exist. The most common variant is the MM phenotype, which is also associated with normal AAT levels. The less common phenotypes with Z a
Autor:
Eva, Morava, Beatrix, Cser, Judit, Kárteszi, Karin, Huijben, Laszlo, Szonyi, Gyorgy, Kosztolanyi, Ron, Wevers
Publikováno v:
Medical science monitor : international medical journal of experimental and clinical research. 10(8)
The features of Joubert syndrome include hypotonia, ataxia, characteristic neuro-imaging findings, episodic hypoventilation, psychomotor retardation, and abnormal eye movements. Common symptoms in congenital disorders of glycosylation (CDG) type Ia a
Autor:
Laszlo Szonyi, Laszlo Takacs, Ferenc Perner, Tibor Gyuris, György Rákóczy, Miklós Péterfy, Dénes Görög, Ferenc Szalay, Eniko Sárváry, Ildikó Kunos
Publikováno v:
The Journal of laboratory and clinical medicine. 134(1)
Dipeptidyl peptidase IV (CD26) is a membrane-associated enzyme that is expressed on the surface of T cells and on the hepatocyte brush border. In a soluble form it is present in serum. CD26 has been implicated in the regulation of T cell activation a