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Results: 1 to 20 of 37

1.

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-Kozicz E, Sperl W, Zeman J, Honzik T.

J Inherit Metab Dis. 2014 Oct 18. [Epub ahead of print]

PMID:
25326274
[PubMed - as supplied by publisher]
2.

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.

Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, Huemer M, Hochuli M, Assoun M, Ballhausen D, Burlina A, Fowler B, Grünert SC, Grünewald S, Honzik T, Merinero B, Pérez-Cerdá C, Scholl-Bürgi S, Skovby F, Wijburg F, MacDonald A, Martinelli D, Sass JO, Valayannopoulos V, Chakrapani A.

Orphanet J Rare Dis. 2014 Sep 2;9:130. doi: 10.1186/s13023-014-0130-8.

PMID:
25205257
[PubMed - in process]
Free PMC Article
3.

Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation.

Park EJ, Grabińska KA, Guan Z, Stránecký V, Hartmannová H, Hodaňová K, Barešová V, Sovová J, Jozsef L, Ondrušková N, Hansíková H, Honzík T, Zeman J, Hůlková H, Wen R, Kmoch S, Sessa WC.

Cell Metab. 2014 Sep 2;20(3):448-57. doi: 10.1016/j.cmet.2014.06.016. Epub 2014 Jul 24.

PMID:
25066056
[PubMed - in process]
4.

Sebelipase alfa over 52weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency.

Valayannopoulos V, Malinova V, Honzík T, Balwani M, Breen C, Deegan PB, Enns GM, Jones SA, Kane JP, Stock EO, Tripuraneni R, Eckert S, Schneider E, Hamilton G, Middleton MS, Sirlin C, Kessler B, Bourdon C, Boyadjiev SA, Sharma R, Twelves C, Whitley CB, Quinn AG.

J Hepatol. 2014 Nov;61(5):1135-42. doi: 10.1016/j.jhep.2014.06.022. Epub 2014 Jun 30.

PMID:
24993530
[PubMed - in process]
Free Article
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.

Neuro Endocrinol Lett. 2014;35(2):137-41.

PMID:
24878975
[PubMed - indexed for MEDLINE]
6.

Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome.

Sípek A Jr, Grodecká L, Baxová A, Cibulková P, Dvořáková M, Mazurová S, Magner M, Zeman J, Honzík T, Freiberger T.

Am J Med Genet A. 2014 Jun;164A(6):1559-64. doi: 10.1002/ajmg.a.36480. Epub 2014 Mar 25.

PMID:
24668922
[PubMed - in process]
7.

Novel mutations in the TAZ gene in patients with Barth syndrome.

Mazurová S, Tesařová M, Magner M, Houšťková H, Hansíková H, Augustínová J, Tomek V, Vondráčková A, Zeman J, Honzík T.

Prague Med Rep. 2013;114(3):139-53.

PMID:
24093814
[PubMed - indexed for MEDLINE]
Free Article
8.

Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders.

Vondráčková A, Veselá K, Kratochvílová H, Kučerová Vidrová V, Vinšová K, Stránecký V, Honzík T, Hansíková H, Zeman J, Tesařová M.

Eur J Hum Genet. 2014 Mar;22(3):431-4. doi: 10.1038/ejhg.2013.148. Epub 2013 Jul 10.

PMID:
23838601
[PubMed - indexed for MEDLINE]
9.

Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics.

Majer F, Pelak O, Kalina T, Vlaskova H, Dvorakova L, Honzik T, Palecek T, Kuchynka P, Masek M, Zeman J, Elleder M, Sikora J.

J Inherit Metab Dis. 2014 Jan;37(1):117-24. doi: 10.1007/s10545-013-9617-z. Epub 2013 May 29.

PMID:
23716275
[PubMed - indexed for MEDLINE]
10.

Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients with cholesteryl ester storage disease.

Balwani M, Breen C, Enns GM, Deegan PB, Honzík T, Jones S, Kane JP, Malinova V, Sharma R, Stock EO, Valayannopoulos V, Wraith JE, Burg J, Eckert S, Schneider E, Quinn AG.

Hepatology. 2013 Sep;58(3):950-7. doi: 10.1002/hep.26289. Epub 2013 Mar 28.

PMID:
23348766
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Hypertrophic cardiomyopathy due to the mitochondrial DNA mutation m.3303C>T diagnosed in an adult male.

Palecek T, Tesarova M, Kuchynka P, Dytrych V, Elleder M, Hulkova H, Hansikova H, Honzik T, Zeman J, Linhart A.

Int Heart J. 2012;53(6):383-7.

PMID:
23258140
[PubMed - indexed for MEDLINE]
Free Article
12.

Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene.

Honzik T, Tesarova M, Vinsova K, Hansikova H, Magner M, Kratochvilova H, Zamecnik J, Zeman J, Jesina P.

Mol Genet Metab. 2013 Jan;108(1):102-5. doi: 10.1016/j.ymgme.2012.11.002. Epub 2012 Nov 13.

PMID:
23206802
[PubMed - indexed for MEDLINE]
13.

RFT1-CDG in adult siblings with novel mutations.

Ondruskova N, Vesela K, Hansikova H, Magner M, Zeman J, Honzik T.

Mol Genet Metab. 2012 Dec;107(4):760-2. doi: 10.1016/j.ymgme.2012.10.002. Epub 2012 Oct 13.

PMID:
23111317
[PubMed - indexed for MEDLINE]
14.

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.

Mol Genet Metab. 2012 Nov;107(3):611-3. doi: 10.1016/j.ymgme.2012.08.014. Epub 2012 Aug 23.

PMID:
22959829
[PubMed - indexed for MEDLINE]
15.

Novel mutations in the tyrosine hydroxylase gene in the first Czech patient with tyrosine hydroxylase deficiency.

Szentiványi K, Hansíková H, Krijt J, Vinšová K, Tesařová M, Rozsypalová E, Klement P, Zeman J, Honzík T.

Prague Med Rep. 2012;113(2):136-46.

PMID:
22691284
[PubMed - indexed for MEDLINE]
Free Article
16.

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.

J Inherit Metab Dis. 2012 Sep;35(5):749-59. doi: 10.1007/s10545-011-9440-3. Epub 2012 Jan 10.

PMID:
22231385
[PubMed - indexed for MEDLINE]
17.

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.

Prague Med Rep. 2011;112(1):18-28.

PMID:
21470495
[PubMed - indexed for MEDLINE]
Free Article
18.

[Clinical, biochemical and molecular characteristics in 11 Czech children with tyrosinemia type I].

Vondrácková A, Tesarová M, Magner M, Docekalová D, Chrastina P, Procházkova D, Zeman J, Honzík T.

Cas Lek Cesk. 2010;149(9):411-6. Czech.

PMID:
21117323
[PubMed - indexed for MEDLINE]
19.

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.

Eur J Paediatr Neurol. 2011 Mar;15(2):101-8. doi: 10.1016/j.ejpn.2010.10.001. Epub 2010 Nov 12.

PMID:
21075023
[PubMed - indexed for MEDLINE]
20.

Vascular presentation of cystathionine beta-synthase deficiency in adulthood.

Magner M, Krupková L, Honzík T, Zeman J, Hyánek J, Kožich V.

J Inherit Metab Dis. 2011 Feb;34(1):33-7. doi: 10.1007/s10545-010-9146-y. Epub 2010 Jun 22.

PMID:
20567906
[PubMed - indexed for MEDLINE]
Free PMC Article

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