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Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.
Keller M, Brennenstuhl H, Kuseyri Hübschmann O, Manti F, Julia Palacios NA, Friedman J, Yıldız Y, Koht JA, Wong SN, Zafeiriou DI, López-Laso E, Pons R, Kulhánek J, Jeltsch K, Serrano-Lomelin J, Garbade SF, Opladen T, Goez H; International Working Group on Neurotransmitter related Disorders (iNTD); Burlina A, Cortès-Saladelafont E, Fernández Ramos JA, García-Cazorla A, Hoffmann GF, Kiat Hong ST, Honzík T, Kavecan I, Kurian MA, Leuzzi V, Lücke T, Manzoni F, Mastrangelo M, Mercimek-Andrews S, Mir P, Oppebøen M, Pearson TS, Sivri HS, Steel D, Stevanović G, Fung CW. Keller M, et al. Among authors: honzik t. J Inherit Metab Dis. 2021 Nov;44(6):1489-1502. doi: 10.1002/jimd.12416. Epub 2021 Aug 2. J Inherit Metab Dis. 2021. PMID: 34245036 Free article.
TMEM70 deficiency: long-term outcome of 48 patients.
Magner M, Dvorakova V, Tesarova M, Mazurova S, Hansikova H, Zahorec M, Brennerova K, Bzduch V, Spiegel R, Horovitz Y, Mandel H, Eminoğlu FT, Mayr JA, Koch J, Martinelli D, Bertini E, Konstantopoulou V, Smet J, Rahman S, Broomfield A, Stojanović V, Dionisi-Vici C, van Coster R, Morava E, Sperl W, Zeman J, Honzik T. Magner M, et al. Among authors: honzik t. J Inherit Metab Dis. 2015 May;38(3):417-26. doi: 10.1007/s10545-014-9774-8. Epub 2014 Oct 18. J Inherit Metab Dis. 2015. PMID: 25326274
Erratum to: TMEM70 deficiency: long-term outcome of 48 patients.
Magner M, Dvorakova V, Tesarova M, Mazurova S, Hansikova H, Zahorec M, Brennerova K, Bzduch V, Spiegel R, Horovitz Y, Mandel H, Eminoğlu FT, Mayr JA, Koch J, Martinelli D, Bertini E, Konstantopoulou V, Smet J, Rahman S, Broomfield A, Stojanović V, Dionisi-Vici C, van Coster R, Morava E, Sperl W, Zeman J, Honzik T. Magner M, et al. Among authors: honzik t. J Inherit Metab Dis. 2015 May;38(3):583-4. doi: 10.1007/s10545-015-9833-9. J Inherit Metab Dis. 2015. PMID: 25778942 No abstract available.
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
Kölker S, Valayannopoulos V, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Boy SP, Rasmussen MB, Burgard P, Chabrol B, Chakrapani A, Chapman K, Cortès I Saladelafont E, Couce ML, de Meirleir L, Dobbelaere D, Furlan F, Gleich F, González MJ, Gradowska W, Grünewald S, Honzik T, Hörster F, Ioannou H, Jalan A, Häberle J, Haege G, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, Murphy E, de Baulny HO, Ortez C, Pedrón CC, Pintos-Morell G, Pena-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Lund AM, Garcia-Cazorla A. Kölker S, et al. Among authors: honzik t. J Inherit Metab Dis. 2015 Nov;38(6):1059-74. doi: 10.1007/s10545-015-9840-x. Epub 2015 Apr 15. J Inherit Metab Dis. 2015. PMID: 25875216
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
Kölker S, Valayannopoulos V, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Boy SP, Rasmussen MB, Burgard P, Chabrol B, Chakrapani A, Chapman K, Cortès I Saladelafont E, Couce ML, de Meirleir L, Dobbelaere D, Furlan F, Gleich F, González MJ, Gradowska W, Grünewald S, Honzik T, Hörster F, Ioannou H, Jalan A, Häberle J, Haege G, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, Murphy E, de Baulny HO, Ortez C, Pedrón CC, Pintos-Morell G, Pena-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Lund AM, Cazorla AG. Kölker S, et al. Among authors: honzik t. J Inherit Metab Dis. 2015 Nov;38(6):1157-8. doi: 10.1007/s10545-015-9868-y. J Inherit Metab Dis. 2015. PMID: 26077421 No abstract available.
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders.
Opladen T, Cortès-Saladelafont E, Mastrangelo M, Horvath G, Pons R, Lopez-Laso E, Fernández-Ramos JA, Honzik T, Pearson T, Friedman J, Scholl-Bürgi S, Wassenberg T, Jung-Klawitter S, Kuseyri O, Jeltsch K, Kurian MA, Garcia-Cazorla À; International Working Group on Neurotransmitter related disorders (iNTD). Opladen T, et al. Among authors: honzik t. Mol Genet Metab Rep. 2016 Oct 20;9:61-66. doi: 10.1016/j.ymgmr.2016.09.006. eCollection 2016 Dec. Mol Genet Metab Rep. 2016. PMID: 27830117 Free PMC article.
Peripapillary microcirculation in Leber hereditary optic neuropathy.
Kousal B, Kolarova H, Meliska M, Bydzovsky J, Diblik P, Kulhanek J, Votruba M, Honzik T, Liskova P. Kousal B, et al. Among authors: honzik t. Acta Ophthalmol. 2019 Feb;97(1):e71-e76. doi: 10.1111/aos.13817. Epub 2018 Sep 26. Acta Ophthalmol. 2019. PMID: 30259673 Free article.
122 results