Detalhe da pesquisa
1.
BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.
Am J Hum Genet
; 98(6): 1243-1248, 2016 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27236923
2.
The efficacy of intracerebroventricular idursulfase-beta enzyme replacement therapy in mucopolysaccharidosis II murine model: heparan sulfate in cerebrospinal fluid as a clinical biomarker of neuropathology.
J Inherit Metab Dis
; 41(6): 1235-1246, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29978271
3.
AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II.
Mol Genet Metab
; 117(4): 447-55, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26857995
4.
Pharmacokinetics, Pharmacodynamics, and Efficacy of a Novel Long-Acting Human Growth Hormone: Fc Fusion Protein.
Mol Pharm
; 12(10): 3759-65, 2015 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26370910
5.
Calpain-mediated proteolysis of polycystin-1 C-terminus induces JAK2 and ERK signal alterations.
Exp Cell Res
; 320(1): 62-8, 2014 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24416790
6.
Improvement of cardiac function by short-term enzyme replacement therapy in a murine model of cardiomyopathy associated with Hunter syndrome evaluated by serial echocardiography with speckle tracking 2-D strain analysis.
Mol Genet Metab
; 112(3): 218-23, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24836711
7.
A biochemical and physicochemical comparison of two recombinant enzymes used for enzyme replacement therapies of hunter syndrome.
Glycoconj J
; 31(4): 309-15, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24781369
8.
High-dose enzyme replacement therapy attenuates cerebroventriculomegaly in a mouse model of mucopolysaccharidosis type II.
J Hum Genet
; 58(11): 728-33, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24005894
9.
Improvement of CNS defects via continuous intrathecal enzyme replacement by osmotic pump in mucopolysaccharidosis type II mice.
Am J Med Genet A
; 161A(5): 1036-43, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23529876
10.
Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA.
Am J Med Genet A
; 161A(3): 509-17, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23401410
11.
Enzyme replacement therapy improves joint motion and outcome of the 12-min walk test in a mucopolysaccharidosis type VI patient previously treated with bone marrow transplantation.
Am J Med Genet A
; 158A(5): 1158-63, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22495825
12.
Auditory characteristics and therapeutic effects of enzyme replacement in mouse model of the mucopolysaccharidosis (MPS) II.
Am J Med Genet A
; 158A(9): 2131-8, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22847837
13.
Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia.
Hum Genet
; 129(5): 497-502, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21221996
14.
A polymorphism in the growth hormone receptor is associated with height in children with Prader-Willi syndrome.
Am J Med Genet A
; 155A(12): 2970-3, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22052808
15.
A Liquid Chromatography-Quadrupole-Time-of-Flight Mass Spectrometric Assay for the Quantification of Fabry Disease Biomarker Globotriaosylceramide (GB3) in Fabry Model Mouse.
Pharmaceutics
; 10(2)2018 Jun 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29880732
16.
Effect of systemic high dose enzyme replacement therapy on the improvement of CNS defects in a mouse model of mucopolysaccharidosis type II.
Orphanet J Rare Dis
; 10: 141, 2015 Oct 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-26520066
17.
Decreased performance in IDUA knockout mouse mimic limitations of joint function and locomotion in patients with Hurler syndrome.
Orphanet J Rare Dis
; 10: 121, 2015 Sep 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-26407983
18.
Morphological, molecular, and biochemical characterization of astaxanthin-producing green microalga Haematococcus sp. KORDI03 (Haematococcaceae, Chlorophyta) isolated from Korea.
J Microbiol Biotechnol
; 25(2): 238-46, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25381742
19.
Morphological, Molecular, and Biochemical Characterization of Monounsaturated Fatty Acids-Rich Chlamydomonas sp. KIOST-1 Isolated from Korea.
J Microbiol Biotechnol
; 25(5): 723-31, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25737118
20.
Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.
Cell Signal
; 26(11): 2446-59, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25064455