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1.
Estimated birth prevalence of mucopolysaccharidoses in Brazil.
Am J Med Genet A
; 182(3): 469-483, 2020 03.
Article
in English
| MEDLINE | ID: mdl-31926052
2.
Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory.
Genet Mol Biol
; 40(1): 31-39, 2017.
Article
in English
| MEDLINE | ID: mdl-28304074
3.
Emerging drugs for the treatment of mucopolysaccharidoses.
Expert Opin Emerg Drugs
; 21(1): 9-26, 2016.
Article
in English
| MEDLINE | ID: mdl-26751109
4.
Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1-related phenotype.
JIMD Rep
; 60(1): 23-31, 2021 Jul.
Article
in English
| MEDLINE | ID: mdl-34258138
5.
Diagnostic and treatment strategies in mucopolysaccharidosis VI.
Appl Clin Genet
; 8: 245-55, 2015.
Article
in English
| MEDLINE | ID: mdl-26586959
6.
Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory
Genet. mol. biol
; 40(1): 31-39, Jan.-Mar. 2017. tab, graf
Article
in English
| LILACS | ID: biblio-892370
7.
Enzyme Replacement Therapy With Elosulfase Alfa Decreases Storage of Glycosaminoglycan in White Blood Cells of Patients With Morquio A Syndrome
J. inborn errors metab. screen
; 3: e140010, 2015. graf
Article
in English
|
LILACS-Express
| ID: biblio-1090871
8.
[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
9.
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
10.
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
11.
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
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