Hrubá E - Search Results

1

[Metabolic complications and neurologic manifestations of vitamin B12 deficiency in children of vegetarian mothers].

Smolka V, Bekárek V, Hlídková E, Bucil J, Mayerová D, Skopková Z, Adam T, Hrubá E, Kozich V, Buriánková L, Saligová J, Buncová M, Zeman J. Smolka V, et al. Among authors: hruba e. Cas Lek Cesk. 2001 Nov 22;140(23):732-5. Cas Lek Cesk. 2001. PMID: 11787236 Czech.

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: hruba e. 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

[Various manifestations of the A8344G mtDNA heteroplasmic mutation in 4 families with the MERRF syndrome].

Stratilová L, Zeman J, Houst'ková H, Hansíková H, Konrádová V, Hůlková H, Elleder M, Růzicka E, Tyl D, Hrubá E, Houstĕk J. Stratilová L, et al. Among authors: hruba e. Cas Lek Cesk. 1999 Jun 28;138(13):401-5. Cas Lek Cesk. 1999. PMID: 10566210 Czech.

4

[Lactate acidosis in childhood].

Zeman J, Stratilová L, Houst'ková H, Dudková Z, Hansíková H, Konrádová V, Hrubá E, Hoza J, Zeman L. Zeman J, et al. Among authors: hruba e. Cas Lek Cesk. 1998 Sep 21;137(18):557-60. Cas Lek Cesk. 1998. PMID: 9818465 Czech.

5

[Disorders of mitochondrial energy metabolism in patients with the Kearns-Sayre syndrome].

Capková M, Tesarová M, Wenchich L, Cerná L, Hansíková H, Hůlková H, Hrubá E, Elleder M, Zeman J. Capková M, et al. Among authors: hruba e. Cas Lek Cesk. 2002 Feb 1;141(2):51-4. Cas Lek Cesk. 2002. PMID: 11925663 Czech.

6

Acute hyperammonaemic encephalopathy in a female newborn caused by a novel, de novo mutation in the ornithine transcarbamylase gene.

Valik D, Sedova Z, Starha J, Zeman J, Hruba E, Dvorakova L. Valik D, et al. Among authors: hruba e. Acta Paediatr. 2004 May;93(5):710-1. Acta Paediatr. 2004. PMID: 15174800

7

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: hruba e. Nutrients. 2021 Aug 24;13(9):2925. doi: 10.3390/nu13092925. Nutrients. 2021. PMID: 34578803 Free PMC article.

8

Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II.

Dvorakova L, Vlaskova H, Sarajlija A, Ramadza DP, Poupetova H, Hruba E, Hlavata A, Bzduch V, Peskova K, Storkanova G, Kecman B, Djordjevic M, Baric I, Fumic K, Barisic I, Reboun M, Kulhanek J, Zeman J, Magner M. Dvorakova L, et al. Among authors: hruba e. Clin Genet. 2017 May;91(5):787-796. doi: 10.1111/cge.12927. Epub 2017 Mar 17. Clin Genet. 2017. PMID: 27883178

9

NOTCH2NLC CGG Repeats Are Not Expanded and Skin Biopsy Was Negative in an Infantile Patient With Neuronal Intranuclear Inclusion Disease.

Jedlickova I, Pristoupilova A, Hulkova H, Vrbacka A, Stranecky V, Hruba E, Jesina P, Honzik T, Hrdlicka I, Fremuth J, Pivovarcikova K, Bitar I, Matej R, Kmoch S, Sikora J. Jedlickova I, et al. Among authors: hruba e. J Neuropathol Exp Neurol. 2020 Oct 1;79(10):1065-1071. doi: 10.1093/jnen/nlaa070. J Neuropathol Exp Neurol. 2020. PMID: 32827029

10

New polymorphic sites within ornithine transcarbamylase gene: population genetics studies and implications for diagnosis.

Azevedo L, Stolnaja L, Tietzeova E, Hrebicek M, Hruba E, Vilarinho L, Amorim A, Dvorakova L. Azevedo L, et al. Among authors: hruba e. Mol Genet Metab. 2003 Feb;78(2):152-7. doi: 10.1016/s1096-7192(03)00019-2. Mol Genet Metab. 2003. PMID: 12618087

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