Zeman J - Search Results

1

Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study.

Rücklová K, Hrubá E, Pavlíková M, Hanák P, Farolfi M, Chrastina P, Vlášková H, Kousal B, Smolka V, Foltenová H, Adam T, Friedecký D, Ješina P, Zeman J, Kožich V, Honzík T. Rücklová K, et al. Among authors: zeman j. Nutrients. 2021 Aug 24;13(9):2925. doi: 10.3390/nu13092925. Nutrients. 2021. PMID: 34578803 Free PMC article.

2

Clinical presentation and metabolic consequences in 40 breastfed infants with nutritional vitamin B12 deficiency--what have we learned?

Honzik T, Adamovicova M, Smolka V, Magner M, Hruba E, Zeman J. Honzik T, et al. Among authors: zeman j. Eur J Paediatr Neurol. 2010 Nov;14(6):488-95. doi: 10.1016/j.ejpn.2009.12.003. Epub 2010 Jan 20. Eur J Paediatr Neurol. 2010. PMID: 20089427

3

Vascular presentation of cystathionine beta-synthase deficiency in adulthood.

Magner M, Krupková L, Honzík T, Zeman J, Hyánek J, Kožich V. Magner M, et al. Among authors: zeman j. J Inherit Metab Dis. 2011 Feb;34(1):33-7. doi: 10.1007/s10545-010-9146-y. Epub 2010 Jun 22. J Inherit Metab Dis. 2011. PMID: 20567906 Free PMC article.

4

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis.

Honzik T, Tesarova M, Magner M, Mayr J, Jesina P, Vesela K, Wenchich L, Szentivanyi K, Hansikova H, Sperl W, Zeman J. Honzik T, et al. Among authors: zeman j. J Inherit Metab Dis. 2012 Sep;35(5):749-59. doi: 10.1007/s10545-011-9440-3. Epub 2012 Jan 10. J Inherit Metab Dis. 2012. PMID: 22231385

5

X-linked adrenoleukodystrophy: phenotype-genotype correlation in hemizygous males and heterozygous females with ABCD1 mutations.

Zemanova M, Chrastina P, Dvorakova L, Reboun M, Vlaskova H, Jahnova H, El-Lababidi N, Cepova J, Honzik T, Zeman J. Zemanova M, et al. Among authors: zeman j. Neuro Endocrinol Lett. 2021 Sep 10;42(5):359-367. Online ahead of print. Neuro Endocrinol Lett. 2021. PMID: 34506099

6

Two patients with clinically distinct manifestation of pyruvate dehydrogenase deficiency due to mutations in PDHA1 gene.

Magner M, Vinšová K, Tesařová M, Hájková Z, Hansíková H, Wenchich L, Ješina P, Smolka V, Adam T, Vaněčková M, Zeman J, Honzík T. Magner M, et al. Among authors: zeman j. Prague Med Rep. 2011;112(1):18-28. Prague Med Rep. 2011. PMID: 21470495

7

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: zeman j. 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

8

Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.

Kožich V, Sokolová J, Morris AAM, Pavlíková M, Gleich F, Kölker S, Krijt J, Dionisi-Vici C, Baumgartner MR, Blom HJ, Huemer M; E-HOD consortium. Kožich V, et al. J Inherit Metab Dis. 2021 May;44(3):677-692. doi: 10.1002/jimd.12338. Epub 2020 Dec 28. J Inherit Metab Dis. 2021. PMID: 33295057 Free PMC article.

9

Elevated CSF-lactate is a reliable marker of mitochondrial disorders in children even after brief seizures.

Magner M, Szentiványi K, Svandová I, Ješina P, Tesařová M, Honzík T, Zeman J. Magner M, et al. Among authors: zeman j. Eur J Paediatr Neurol. 2011 Mar;15(2):101-8. doi: 10.1016/j.ejpn.2010.10.001. Epub 2010 Nov 12. Eur J Paediatr Neurol. 2011. PMID: 21075023

10

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. Among authors: zeman j. Prague Med Rep. 2015;116(2):73-86. doi: 10.14712/23362936.2015.48. Prague Med Rep. 2015. PMID: 26093664 Free article.

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