Search details
1.
Evaluation of plasma biomarkers of inflammation in patients with maple syrup urine disease.
J Inherit Metab Dis
; 2018 May 08.
Article
in English
| MEDLINE | ID: mdl-29740775
2.
A novel Xp11.22 duplication involving HUWE1 in a male with syndromic intellectual disability and additional neurological findings.
Eur J Med Genet
; 66(4): 104716, 2023 Apr.
Article
in English
| MEDLINE | ID: mdl-36731745
3.
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.
HGG Adv
; 3(1): 100074, 2022 Jan 13.
Article
in English
| MEDLINE | ID: mdl-35047859
4.
Ethical issues related to the access to orphan drugs in Brazil: the case of mucopolysaccharidosis type I.
J Med Ethics
; 37(4): 233-9, 2011 Apr.
Article
in English
| MEDLINE | ID: mdl-21266385
5.
Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome.
Eur J Med Genet
; 64(12): 104367, 2021 Dec.
Article
in English
| MEDLINE | ID: mdl-34678473
6.
Skewed X-Chromosome Inactivation and Compensatory Upregulation of Escape Genes Precludes Major Clinical Symptoms in a Female With a Large Xq Deletion.
Front Genet
; 11: 101, 2020.
Article
in English
| MEDLINE | ID: mdl-32194616
7.
Mucopolysaccharidoses in Brazil: what happens from birth to biochemical diagnosis?
Am J Med Genet A
; 146A(13): 1741-7, 2008 Jul 01.
Article
in English
| MEDLINE | ID: mdl-18546277
8.
A clinical study of 77 patients with mucopolysaccharidosis type II.
Acta Paediatr
; 96(455): 63-70, 2007 Apr.
Article
in English
| MEDLINE | ID: mdl-17391446
9.
GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms.
Int J Biochem Cell Biol
; 92: 90-94, 2017 11.
Article
in English
| MEDLINE | ID: mdl-28918368
10.
Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.
PLoS One
; 12(6): e0180463, 2017.
Article
in English
| MEDLINE | ID: mdl-28640880
11.
Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.
PLoS One
; 12(5): e0177503, 2017.
Article
in English
| MEDLINE | ID: mdl-28498829
12.
ARX mutation c.428-451dup (24bp) in a Brazilian family with X-linked mental retardation.
Eur J Med Genet
; 49(3): 269-75, 2006.
Article
in English
| MEDLINE | ID: mdl-16762829
13.
Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome.
Am J Med Genet A
; 155A(5): 988-92, 2011 May.
Article
in English
| MEDLINE | ID: mdl-21480478
14.
Finding FMR1 mosaicism in Fragile X syndrome.
Expert Rev Mol Diagn
; 16(4): 501-7, 2016.
Article
in English
| MEDLINE | ID: mdl-26716517
15.
Medical Costs Related to Enzyme Replacement Therapy for Mucopolysaccharidosis Types I, II, and VI in Brazil: A Multicenter Study.
Value Health Reg Issues
; 8: 99-106, 2015 Dec.
Article
in English
| MEDLINE | ID: mdl-29698178
16.
Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment.
Genet Mol Biol
; 33(4): 589-604, 2010 Oct.
Article
in English
| MEDLINE | ID: mdl-21637564
17.
[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.
Article
in Portuguese
| MEDLINE | ID: mdl-20676532
18.
[Principle of protection and treatment of rare genetic diseases in Brazil: the case of lysosomal storage disorders]. / Bioética da proteção e tratamento de doenças genéticas raras no Brasil: o caso das doenças de depósito lisossomal.
Cad Saude Publica
; 25(6): 1276-84, 2009 Jun.
Article
in Portuguese
| MEDLINE | ID: mdl-19503958
19.
Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment
Genet. mol. biol
; 33(4): 589-604, 2010. graf, tab
Article
in English
| LILACS | ID: lil-571531
20.
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
Article
in Portuguese
| LILACS | ID: lil-553275