Ondruskova N - Search Results

1

Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.

Dang Do AN, Chang IJ, Jiang X, Wolfe LA, Ng BG, Lam C, Schnur RE, Allis K, Hansikova H, Ondruskova N, O'Connor SD, Sanchez-Valle A, Vollo A, Wang RY, Wolfenson Z, Perreault J, Ory DS, Freeze HH, Merritt JL, Porter FD. Dang Do AN, et al. Among authors: ondruskova n. J Inherit Metab Dis. 2023 Mar;46(2):326-334. doi: 10.1002/jimd.12595. Epub 2023 Feb 3. J Inherit Metab Dis. 2023. PMID: 36719165 Free PMC article.

2

Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I.

Guillard M, Wada Y, Hansikova H, Yuasa I, Vesela K, Ondruskova N, Kadoya M, Janssen A, Van den Heuvel LP, Morava E, Zeman J, Wevers RA, Lefeber DJ. Guillard M, et al. Among authors: ondruskova n. J Inherit Metab Dis. 2011 Aug;34(4):901-6. doi: 10.1007/s10545-011-9311-y. Epub 2011 Mar 23. J Inherit Metab Dis. 2011. PMID: 21431619 Free PMC article.

3

Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency.

Honzík T, Magner M, Krijt J, Sokolová J, Vugrek O, Belužić R, Barić I, Hansíkova H, Elleder M, Veselá K, Bauerová L, Ondrušková N, Ješina P, Zeman J, Kožich V. Honzík T, et al. Among authors: ondruskova n. Mol Genet Metab. 2012 Nov;107(3):611-3. doi: 10.1016/j.ymgme.2012.08.014. Epub 2012 Aug 23. Mol Genet Metab. 2012. PMID: 22959829

4

RFT1-CDG in adult siblings with novel mutations.

Ondruskova N, Vesela K, Hansikova H, Magner M, Zeman J, Honzik T. Ondruskova N, et al. Mol Genet Metab. 2012 Dec;107(4):760-2. doi: 10.1016/j.ymgme.2012.10.002. Epub 2012 Oct 13. Mol Genet Metab. 2012. PMID: 23111317

5

Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient.

Ondruskova N, Honzik T, Vondrackova A, Tesarova M, Zeman J, Hansikova H. Ondruskova N, et al. Neuro Endocrinol Lett. 2014;35(2):137-41. Neuro Endocrinol Lett. 2014. PMID: 24878975

6

Isoelectric Focusing of Serum Apolipoprotein C-III as a Sensitive Screening Method for the Detection of O-glycosylation Disturbances.

Ondrušková N, Honzík T, Kytnarová J, Matoulek M, Zeman J, Hansíková H. Ondrušková N, et al. Prague Med Rep. 2015;116(2):73-86. doi: 10.14712/23362936.2015.48. Prague Med Rep. 2015. PMID: 26093664 Free article.

7

Aberrant apolipoprotein C-III glycosylation in glycogen storage disease type III and IX.

Ondruskova N, Honzik T, Kolarova H, Pakanova Z, Mucha J, Zeman J, Hansikova H. Ondruskova N, et al. Metabolism. 2018 May;82:135-141. doi: 10.1016/j.metabol.2018.01.004. Epub 2018 Feb 2. Metabolism. 2018. PMID: 29408683 No abstract available.

8

Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case.

Kousal B, Honzík T, Hansíková H, Ondrušková N, Čechová A, Tesařová M, Stránecký V, Meliška M, Michaelides M, Lišková P. Kousal B, et al. Among authors: ondruskova n. Folia Biol (Praha). 2019;65(3):134-141. Folia Biol (Praha). 2019. PMID: 31638560 Free article. Review.

9

Severe phenotype of ATP6AP1-CDG in two siblings with a novel mutation leading to a differential tissue-specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation.

Ondruskova N, Honzik T, Vondrackova A, Stranecky V, Tesarova M, Zeman J, Hansikova H. Ondruskova N, et al. J Inherit Metab Dis. 2020 Jul;43(4):694-700. doi: 10.1002/jimd.12237. Epub 2020 Apr 7. J Inherit Metab Dis. 2020. PMID: 32216104 Free PMC article.

10

A new role for dolichol isoform profile in the diagnostics of CDG disorders.

Zdrazilova L, Kuchar L, Ondruskova N, Honzik T, Hansikova H. Zdrazilova L, et al. Among authors: ondruskova n. Clin Chim Acta. 2020 Aug;507:88-93. doi: 10.1016/j.cca.2020.04.012. Epub 2020 Apr 11. Clin Chim Acta. 2020. PMID: 32289257 Free article.

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