Detalhe da pesquisa
1.
Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations.
J Hum Genet
; 61(6): 555-60, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26935170
2.
Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma.
Dis Model Mech
; 13(11)2020 11 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33023972
3.
Clinical Characterization of Mucolipidoses II and III: A Multicenter Study.
J Pediatr Genet
; 8(4): 198-204, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31687257
4.
A double-blind, randomised, crossover trial of two botulinum toxin type a in patients with spasticity.
PLoS One
; 8(2): e56479, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23468866
5.
Functional capacity evaluation of patients with mucopolysaccharidosis.
J Pediatr Rehabil Med
; 5(1): 37-46, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22543891
6.
Mucopolysaccharidosis: Caregiver Quality of Life
J. inborn errors metab. screen
; 3: e150001, 2015. tab
Artigo
em Inglês
|
LILACS-Express
| ID: biblio-1090869