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
Inglês
| MEDLINE | ID: mdl-34341521
2.
Use of a multiplex ligation-dependent probe amplification method for the detection of deletions/duplications in the GBA1 gene in Gaucher disease patients.
Blood Cells Mol Dis
; 68: 17-20, 2018 02.
Artigo
Inglês
| MEDLINE | ID: mdl-27825739
3.
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
Inglês
| MEDLINE | ID: mdl-24688287
4.
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
Inglês
| MEDLINE | ID: mdl-38355898
5.
Quality of life of Brazilian families who have children with Fragile X syndrome: a descriptive study.
J Community Genet
; 14(4): 407-418, 2023 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-37594660
6.
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
Inglês
| MEDLINE | ID: mdl-21204210
7.
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
Inglês
| MEDLINE | ID: mdl-30866944
8.
Copy Number Variations in a Cohort of 420 Individuals with Neurodevelopmental Disorders From the South of Brazil.
Sci Rep
; 9(1): 17776, 2019 11 28.
Artigo
Inglês
| MEDLINE | ID: mdl-31780800
9.
Hypersensitivity reactions and enzyme replacement therapy: Outcomes and safety of rapid desensitization in 1,008 infusions.
J Allergy Clin Immunol Pract
; 10(3): 870-873.e1, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34742930
10.
Recent Advances in Treatment Approaches of Mucopolysaccharidosis VI.
Curr Pharm Biotechnol
; 12(6): 956-62, 2011 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-21506914
11.
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
Inglês
| MEDLINE | ID: mdl-21808707
12.
[Enzyme replacement therapy for mucopolysaccharidoses I, II and VI: recommendations from a group of Brazilian F experts]. / Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros.
Rev Assoc Med Bras (1992)
; 56(3): 271-7, 2010.
Artigo
Português
| MEDLINE | ID: mdl-20676532
13.
Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment.
Genet Mol Biol
; 33(4): 589-604, 2010 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-21637564
14.
Poland syndrome associated with an aberrant subclavian artery and vascular abnormalities of the retina in a child exposed to misoprostol during pregnancy.
Birth Defects Res A Clin Mol Teratol
; 79(6): 507-11, 2007 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-17393483
15.
Combined chemotherapy and teratogenicity.
Birth Defects Res A Clin Mol Teratol
; 73(9): 634-7, 2005 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-16104005
16.
Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros / Enzyme replacement therapy for mucopolysaccharidoses I, II and VI: recommendations from a group of Brazilian F experts
Rev. Assoc. Med. Bras. (1992)
; 56(3): 271-277, 2010. tab
Artigo
Português
| LILACS | ID: lil-553275
17.
Dystonia, autoimmune disease and cerebral white matter abnormalities in a patient with 18p deletion.
Arq Neuropsiquiatr
; 67(3A): 689-91, 2009 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-19722050
18.
Dystonia, autoimmune disease and cerebral white matter abnormalities in a patient with 18p deletion / Distonia, doença autoimune e anormalidades da substância branca cerebral em paciente com deleção 18p
Arq. neuropsiquiatr
; 67(3a): 689-691, Sept. 2009. ilus
Artigo
Inglês
| LILACS | ID: lil-523621