Detalhe da pesquisa
1.
Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study.
Genet Med
; 23(11): 2067-2075, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34257421
2.
Quantification of lectin fluorescence in GNE myopathy muscle biopsies.
Muscle Nerve
; 58(2): 286-292, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29603301
3.
Mutation update for GNE gene variants associated with GNE myopathy.
Hum Mutat
; 35(8): 915-26, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24796702
4.
Non-specific accumulation of glycosphingolipids in GNE myopathy.
J Inherit Metab Dis
; 37(2): 297-308, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24136589
5.
Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene.
Hum Genet
; 132(12): 1383-93, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23925499
6.
Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy.
Mol Genet Metab
; 107(4): 748-55, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23122659
7.
Rationale and Design for a Phase 1 Study of N-Acetylmannosamine for Primary Glomerular Diseases.
Kidney Int Rep
; 4(10): 1454-1462, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31701055
8.
Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects.
Hum Mutat
; 28(7): 732-8, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17377962
9.
Elevated plasma free sialic acid levels in individuals with reduced glomerular filtration rates.
Kidney360
; 1(9): 957-961, 2020 09 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-33969317
10.
Sialylation of Thomsen-Friedenreich antigen is a noninvasive blood-based biomarker for GNE myopathy.
Biomark Med
; 8(5): 641-52, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25123033
11.
Novel mutations in the STK11 gene in Thai patients with Peutz-Jeghers syndrome.
World J Gastroenterol
; 15(42): 5364-7, 2009 Nov 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-19908348