Detalhe da pesquisa
1.
An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia.
BMC Med Genet
; 19(1): 64, 2018 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-29678161
2.
Simultaneous analysis of carbohydrates, polyols and amines in urine samples using chemical ionization gas chromatography with tandem mass spectrometry.
J Sep Sci
; 41(2): 449-458, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29082628
3.
Augmenting clinical interpretability of thiopurine methyltransferase laboratory evaluation.
Oncology
; 86(3): 152-8, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24643197
4.
[Historical aspects of the Smith-Lemli-Opitz syndrome]. / Historické aspekty Smithovho-Lemliho-Opitzovho syndrómu.
Cas Lek Cesk
; 153(1): 36-9, 2014.
Artigo
em Cs
| MEDLINE | ID: mdl-24506692
5.
Preanalytical quality improvement: in quality we trust.
Clin Chem Lab Med
; 51(1): 229-41, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23072858
6.
Cataract and early nystagmus due to galactokinase deficiency.
J Inherit Metab Dis
; 40(5): 749-750, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28429145
7.
Newborn with neonatal form of molybdenum cofactor deficiency - the first patient in the Slovak Republic.
Neuro Endocrinol Lett
; 31 Suppl 2: 5-7, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-21187823
8.
Conjugated hyperbilirubinaemia as the first manifestation of mevalonic aciduria in a term newborn.
Neuro Endocrinol Lett
; 30 Suppl 1: 29-31, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-20027140
9.
Reversible asphyxial status in a newborn due to neonatal form of carnitine palmitoyltransferase II deficiency.
Neuro Endocrinol Lett
; 29(5): 627-30, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18987586
10.
Determination of sevoflurane and its metabolite hexafluoroisopropanol by direct injection of human plasma into gas chromatography-tandem mass spectrometry.
J Chromatogr A
; 1219: 173-6, 2012 Jan 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-22137778
11.
Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders.
J Chromatogr A
; 1226: 11-7, 2012 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-22018716