Detalhe da pesquisa
1.
White matter alteration and cerebellar atrophy are hallmarks of brain MRI in alpha-mannosidosis.
Mol Genet Metab
; 132(3): 189-197, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33317989
2.
A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum.
Am J Med Genet A
; 185(11): 3494-3501, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34467644
3.
Spectrum of GBA mutations in patients with Gaucher disease from Slovakia: identification of five novel mutations.
Isr Med Assoc J
; 17(3): 166-70, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25946768
4.
[Association between asymptomatic hyperuricaemia and metabolic syndrome in the adolescents]. / Asymptomatická hyperurikémia a metabolický syndróm u mladistvých.
Vnitr Lek
; 61(1): 42-9, 2015 Jan.
Artigo
em Tcheco
| MEDLINE | ID: mdl-25693615
5.
Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.
Ann Hum Genet
; 77(5): 364-79, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23758643
6.
The Application of HPLC-FLD and NMR in the Monitoring of Therapy Efficacy in Alpha-Mannosidosis.
Front Biosci (Landmark Ed)
; 28(2): 39, 2023 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36866557
7.
Fabry Disease in Slovakia: How the Situation Has Changed over 20 Years of Treatment.
J Pers Med
; 12(6)2022 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35743707
8.
The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers.
Orphanet J Rare Dis
; 17(1): 136, 2022 03 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35331284
9.
Elevated immunoglobulin D levels in children with PFAPA syndrome.
Neuro Endocrinol Lett
; 31(6): 743-6, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-21196927
10.
Food intake, leisure time activities and the prevalence of obesity in schoolchildren in Slovakia.
Cent Eur J Public Health
; 18(4): 192-7, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21361101
11.
Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.
Am J Med Genet A
; 149A(5): 965-74, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19396826
12.
Application of MALDI-TOF Mass Spectrometry for Non-invasive Diagnostics of Mucopolysaccharidosis IIIA
J. inborn errors metab. screen
; 11: e2022022, 2023. tab, graf
Artigo
em Inglês
|
LILACS-Express
| ID: biblio-1421994
13.
The prevalence of melanocortin-4 receptor gene mutations in Slovak obese children and adolescents.
J Pediatr Endocrinol Metab
; 29(1): 55-61, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26244670
14.
Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series.
Orphanet J Rare Dis
; 11(1): 51, 2016 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-27129473
15.
Evaluation of lipid and glucose metabolism and cortisol and thyroid hormone levels in obese appropriate for gestational age (AGA) born and non-obese small for gestational age (SGA) born prepubertal Slovak children.
J Pediatr Endocrinol Metab
; 27(7-8): 693-9, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24706427
16.
Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series
Artigo
em Inglês
| ARCA | ID: arc-41017