Detalhe da pesquisa
1.
Nutritional interventions for patients with alkaptonuria: A minireview.
Endocr Regul
; 57(1): 61-67, 2023 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36966367
2.
APOC3 and ABCA1 variants in unusual combined hypolipidaemia showing premature peripheral vascular disease.
Bratisl Lek Listy
; 124(5): 351-355, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36876364
3.
Molecularly confirmed pontocerebellar hypoplasia in a large family from Slovakia with four severely affected children.
Bratisl Lek Listy
; 123(8): 568-572, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35852507
4.
Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion but also produced in the kidney in alkaptonuria.
J Inherit Metab Dis
; 43(4): 737-747, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31609457
5.
ApreciseKUre: an approach of Precision Medicine in a Rare Disease.
BMC Med Inform Decis Mak
; 17(1): 42, 2017 Apr 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-28410607
6.
The first Slovak Legius syndrome patient carrying the SPRED1 gene mutation.
Gen Physiol Biophys
; 36(2): 205-210, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28150585
7.
Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1): an international, multicentre, randomised, open-label, no-treatment controlled, parallel-group, dose-response study to investigate the effect of once daily nitisinone on 24-h urinary homogentisic acid excretion in patients with alkaptonuria after 4 weeks of treatment.
Ann Rheum Dis
; 75(2): 362-7, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25475116
8.
Mutation screening of the HGD gene identifies a novel alkaptonuria mutation with significant founder effect and high prevalence.
Ann Hum Genet
; 78(3): 155-64, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24575791
9.
Alkaptonuria.
Nat Rev Dis Primers
; 10(1): 16, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38453957
10.
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
11.
Analysis of Leucine-rich repeat kinase 2 (LRRK2) and Parkinson protein 2 (parkin, PARK2) genes mutations in Slovak Parkinson disease patients.
Gen Physiol Biophys
; 32(1): 55-66, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23531835
12.
Degenerative Osteoarthritis with Multiple Joint Arthroplasties Due to Alkaptonuria, a Rare Inborn Error of Tyrosine Metabolism.
Isr Med Assoc J
; 20(4): 260-261, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29629736
13.
Breakpoints characterisation of the genomic deletions identified by MLPA in alkaptonuria patients.
Eur J Hum Genet
; 31(4): 485-489, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35110678
14.
Combination of expert guidelines-based and machine learning-based approaches leads to superior accuracy of automated prediction of clinical effect of copy number variations.
Sci Rep
; 13(1): 10531, 2023 06 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37386017
15.
Analysis of the Phenotype Differences in Siblings with Alkaptonuria.
Metabolites
; 12(10)2022 Oct 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36295892
16.
Alkaptonuria in Russia.
Eur J Hum Genet
; 30(2): 237-242, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34504318
17.
Radiological evolution of spinal disease in alkaptonuria and the effect of nitisinone.
RMD Open
; 8(2)2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36270742
18.
An update on molecular genetics of Alkaptonuria (AKU).
J Inherit Metab Dis
; 34(6): 1127-36, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21720873
19.
AML/MDS with 11q/MLL amplification show characteristic gene expression signature and interplay of DNA copy number changes.
Genes Chromosomes Cancer
; 48(6): 510-20, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19306356
20.
Alkaptonuria: Current Perspectives.
Appl Clin Genet
; 13: 37-47, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32158253