Detalhe da pesquisa
1.
Severe lymphatic microangiopathy in Fabry disease.
Lymphat Res Biol
; 1(3): 185-9, 2003.
Artigo
em Inglês
| MEDLINE | ID: mdl-15624436
2.
Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene.
Eur J Pediatr
; 164(8): 509-14, 2005 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15889279
3.
A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy.
Am J Med Genet A
; 132A(4): 369-75, 2005 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15633164
4.
Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries.
Mol Genet Metab
; 86(3): 353-9, 2005 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-16140556
5.
Mass spectrometric analysis of human transferrin in different body fluids.
Clin Chem Lab Med
; 41(12): 1580-8, 2003 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-14708882