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Year Number of Results
2007 1
2008 4
2010 5
2011 2
2012 5
2013 4
2014 11
2015 9
2016 5
2017 6
2018 10
2019 7
2020 17
2021 15
2022 5
2023 5
2024 1

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94 results

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Page 1
Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency.
Aldrian D, Waldner B, Vogel GF, El-Gharbawy AH, McKiernan P, Vockley J, Landau YE, Al Mutairi F, Stepien KM, Kwok AM, Yıldız Y, Honzik T, Kelifova S, Ellaway C, Lund AM, Mori M, Grünert SC, Scholl-Bürgi S, Zöggeler T, Oberhuber R, Schneeberger S, Müller T, Karall D. Aldrian D, et al. Among authors: honzik t. J Inherit Metab Dis. 2024 Mar;47(2):220-229. doi: 10.1002/jimd.12717. Epub 2024 Feb 20. J Inherit Metab Dis. 2024. PMID: 38375550
Genetic findings in Czech patients with limb girdle muscular dystrophy.
Zídková J, Kramářová T, Kopčilová J, Réblová K, Haberlová J, Mazanec R, Voháňka S, Gřegořová A, Langová M, Honzík T, Šoukalová J, Ošlejšková H, Solařová P, Vyhnálková E, Fajkusová L. Zídková J, et al. Among authors: honzik t. Clin Genet. 2023 Nov;104(5):542-553. doi: 10.1111/cge.14407. Epub 2023 Aug 1. Clin Genet. 2023. PMID: 37526466
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Himmelreich N, Bertoldi M, Alfadhel M, Alghamdi MA, Anikster Y, Bao X, Bashiri FA, Zeev BB, Bisello G, Ceylan AC, Chien YH, Choy YS, Elsea SH, Flint L, García-Cazorla À, Gijavanekar C, Gümüş EY, Hamad MH, Hişmi B, Honzik T, Kuseyri Hübschmann O, Hwu WL, Ibáñez-Micó S, Jeltsch K, Juliá-Palacios N, Kasapkara ÇS, Kurian MA, Kusmierska K, Liu N, Ngu LH, Odom JD, Ong WP, Opladen T, Oppeboen M, Pearl PL, Pérez B, Pons R, Rygiel AM, Shien TE, Spaull R, Sykut-Cegielska J, Tabarki B, Tangeraas T, Thöny B, Wassenberg T, Wen Y, Yakob Y, Yin JGC, Zeman J, Blau N. Himmelreich N, et al. Among authors: honzik t. Mol Genet Metab. 2023 Aug;139(4):107647. doi: 10.1016/j.ymgme.2023.107647. Epub 2023 Jul 7. Mol Genet Metab. 2023. PMID: 37453860 No abstract available.
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Himmelreich N, Bertoldi M, Alfadhel M, Alghamdi MA, Anikster Y, Bao X, Bashiri FA, Zeev BB, Bisello G, Ceylan AC, Chien YH, Choy YS, Elsea SH, Flint L, García-Cazorla À, Gijavanekar C, Gümüş EY, Hamad MH, Hişmi B, Honzik T, Hübschmann OK, Hwu WL, Ibáñez-Micó S, Jeltsch K, Juliá-Palacios N, Kasapkara ÇS, Kurian MA, Kusmierska K, Liu N, Ngu LH, Odom JD, Ong WP, Opladen T, Oppeboen M, Pearl PL, Pérez B, Pons R, Rygiel AM, Shien TE, Spaull R, Sykut-Cegielska J, Tabarki B, Tangeraas T, Thöny B, Wassenberg T, Wen Y, Yakob Y, Yin JGC, Zeman J, Blau N. Himmelreich N, et al. Among authors: honzik t. Mol Genet Metab. 2023 Jul;139(3):107624. doi: 10.1016/j.ymgme.2023.107624. Epub 2023 Jun 2. Mol Genet Metab. 2023. PMID: 37348148 Free article.
Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes.
Rákosníková T, Kelifová S, Štufková H, Lokvencová K, Lišková P, Kousal B, Honzík T, Hansíková H, Martínek V, Tesařová M. Rákosníková T, et al. Among authors: honzik t. Front Genet. 2023 May 18;14:1182288. doi: 10.3389/fgene.2023.1182288. eCollection 2023. Front Genet. 2023. PMID: 37274791 Free PMC article.
Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches.
Himmelreich N, Kikul F, Zdrazilova L, Honzik T, Hecker A, Poschet G, Lüchtenborg C, Brügger B, Strahl S, Bürger F, Okun JG, Hansikova H, Thiel C. Himmelreich N, et al. Among authors: honzik t. Mol Genet Metab. 2023 Jul;139(3):107610. doi: 10.1016/j.ymgme.2023.107610. Epub 2023 May 16. Mol Genet Metab. 2023. PMID: 37245379
Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis.
Kožich V, Schwahn BC, Sokolová J, Křížková M, Ditroi T, Krijt J, Khalil Y, Křížek T, Vaculíková-Fantlová T, Stibůrková B, Mills P, Clayton P, Barvíková K, Blessing H, Sykut-Cegielska J, Dionisi-Vici C, Gasperini S, García-Cazorla Á, Haack TB, Honzík T, Ješina P, Kuster A, Laugwitz L, Martinelli D, Porta F, Santer R, Schwarz G, Nagy P. Kožich V, et al. Among authors: honzik t. Redox Biol. 2022 Dec;58:102517. doi: 10.1016/j.redox.2022.102517. Epub 2022 Oct 18. Redox Biol. 2022. PMID: 36306676 Free PMC article.
Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency.
Scharre S, Posset R, Garbade SF, Gleich F, Seidl MJ, Druck AC, Okun JG, Gropman AL, Nagamani SCS, Hoffmann GF, Kölker S, Zielonka M; Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group. Scharre S, et al. Ann Clin Transl Neurol. 2022 Nov;9(11):1715-1726. doi: 10.1002/acn3.51668. Epub 2022 Oct 10. Ann Clin Transl Neurol. 2022. PMID: 36217298 Free PMC article.
A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome.
Štufková H, Kolářová H, Lokvencová K, Honzík T, Zeman J, Hansíková H, Tesařová M. Štufková H, et al. Among authors: honzik t. Genes (Basel). 2022 Jul 14;13(7):1245. doi: 10.3390/genes13071245. Genes (Basel). 2022. PMID: 35886028 Free PMC article.
Transient Hyperphosphatasemia in a Child with Autism Spectrum Disorder.
Kutílek Š, Rondziková-Mlynarčíková E, Pečenková K, Pikner R, Šmída T, Sládková E, Honzík T, Kolářová H, Magner M. Kutílek Š, et al. Among authors: honzik t. Acta Medica (Hradec Kralove). 2022;65(1):41-43. doi: 10.14712/18059694.2022.16. Acta Medica (Hradec Kralove). 2022. PMID: 35793509 Free article.
94 results