Detalhe da pesquisa
1.
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.
J Inherit Metab Dis
; 47(3): 447-462, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38499966
2.
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.
J Inherit Metab Dis
; 44(6): 1489-1502, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34245036
3.
Dopa-responsive dystonia in Bulgarian patients: report of three cases.
Eur J Hum Genet
; 2023 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37165102
4.
Genetics of Lafora progressive myoclonic epilepsy: current perspectives.
Appl Clin Genet
; 9: 49-53, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27194917
5.
Quantitation of pregabalin in dried blood spots and dried plasma spots by validated LC-MS/MS methods.
J Pharm Biomed Anal
; 109: 79-84, 2015 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-25767905
6.
Vigabatrin in dried plasma spots: validation of a novel LC-MS/MS method and application to clinical practice.
J Chromatogr B Analyt Technol Biomed Life Sci
; 962: 102-108, 2014 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24908379
7.
Lafora disease: severe phenotype associated with homozygous deletion of the NHLRC1 gene.
J Neurol Sci
; 325(1-2): 170-3, 2013 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23317923
8.
Clubfoot in children.
Acta Chir Iugosl
; 58(3): 97-101, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22369026