Detalhe da pesquisa
1.
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
Cell
; 142(2): 203-17, 2010 Jul 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-20637498
2.
Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.
Am J Hum Genet
; 108(7): 1342-1349, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34143952
3.
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.
Am J Hum Genet
; 108(11): 2130-2144, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34653363
4.
N-linked glycosylation of the M-protein variable region: glycoproteogenomics reveals a new layer of personalized complexity in multiple myeloma.
Clin Chem Lab Med
; 2024 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38332688
5.
Mixed-phase weak anion-exchange/reversed-phase LC-MS/MS for analysis of nucleotide sugars in human fibroblasts.
Anal Bioanal Chem
; 2024 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38676823
6.
Sialic acid biosynthesis pathway blockade disturbs neuronal network formation in human iPSC-derived excitatory neurons.
J Neurochem
; 167(1): 76-89, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37650222
7.
Distinguishing Oligosaccharide Isomers Using Far-Infrared Ion Spectroscopy: Identification of Biomarkers for Inborn Errors of Metabolism.
Anal Chem
; 95(26): 9787-9796, 2023 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37341384
8.
Oral sialic acid supplementation in NANS-CDG: Results of a single center, open-label, observational pilot study.
J Inherit Metab Dis
; 46(5): 956-971, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37340906
9.
MOGS-CDG: Quantitative analysis of the diagnostic Glc3 Man tetrasaccharide and clinical spectrum of six new cases.
J Inherit Metab Dis
; 46(2): 313-325, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36651519
10.
Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit.
J Inherit Metab Dis
; 46(1): 66-75, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36088537
11.
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Brain
; 145(1): 208-223, 2022 03 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34382076
12.
Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.
Int J Mol Sci
; 24(10)2023 May 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37239976
13.
Glycoproteomics in Cerebrospinal Fluid Reveals Brain-Specific Glycosylation Changes.
Int J Mol Sci
; 24(3)2023 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36768261
14.
The GlycoPaSER Prototype as a Real-Time N-Glycopeptide Identification Tool Based on the PaSER Parallel Computing Platform.
Int J Mol Sci
; 24(9)2023 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37175577
15.
In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis.
Int J Mol Sci
; 24(9)2023 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37175952
16.
Dynamic tracing of sugar metabolism reveals the mechanisms of action of synthetic sugar analogs.
Glycobiology
; 32(3): 239-250, 2022 03 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34939087
17.
Analysis of hemopexin plasma levels in patients with age-related macular degeneration.
Mol Vis
; 28: 536-543, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-37089696
18.
Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia.
J Inherit Metab Dis
; 45(4): 748-758, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35527402
19.
Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.
J Inherit Metab Dis
; 45(4): 769-781, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35279850
20.
Desialylation of platelets induced by Von Willebrand Factor is a novel mechanism of platelet clearance in dengue.
PLoS Pathog
; 15(3): e1007500, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30849118