Detalhe da pesquisa
1.
Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III.
Genet Med
; 23(12): 2369-2377, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34341521
2.
Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network.
Genet Mol Biol
; 37(1): 23-9, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24688287
3.
A cohort study of neurodevelopmental disorders and/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD.
Sci Rep
; 14(1): 3762, 2024 02 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38355898
4.
Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X-inactivation analysis and imaging evaluations.
Am J Med Genet A
; 155A(1): 50-7, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21204210
5.
Long contiguous stretches of homozygosity detected by chromosomal microarrays (CMA) in patients with neurodevelopmental disorders in the South of Brazil.
BMC Med Genomics
; 12(1): 50, 2019 03 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30866944
6.
Recent Advances in Treatment Approaches of Mucopolysaccharidosis VI.
Curr Pharm Biotechnol
; 12(6): 956-62, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21506914
7.
Orthopedic manifestations in patients with mucopolysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey.
Orthop Rev (Pavia)
; 2(2): e16, 2010 Sep 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-21808707
8.
Combined chemotherapy and teratogenicity.
Birth Defects Res A Clin Mol Teratol
; 73(9): 634-7, 2005 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16104005