Detalhe da pesquisa
1.
In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis.
Int J Mol Sci
; 24(9)2023 May 04.
Artigo
Inglês
| MEDLINE | ID: mdl-37175952
2.
Dynamic tracing of sugar metabolism reveals the mechanisms of action of synthetic sugar analogs.
Glycobiology
; 32(3): 239-250, 2022 03 30.
Artigo
Inglês
| MEDLINE | ID: mdl-34939087
3.
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
Inglês
| MEDLINE | ID: mdl-35279850
4.
Structure-Activity Relationship of Fluorinated Sialic Acid Inhibitors for Bacterial Sialylation.
Bioconjug Chem
; 32(6): 1047-1051, 2021 06 16.
Artigo
Inglês
| MEDLINE | ID: mdl-34043338
5.
Combined sialic acid and histone deacetylase (HDAC) inhibitor treatment up-regulates the neuroblastoma antigen GD2.
J Biol Chem
; 294(12): 4437-4449, 2019 03 22.
Artigo
Inglês
| MEDLINE | ID: mdl-30670592
6.
Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation.
Hum Mol Genet
; 27(17): 3029-3045, 2018 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29878199
7.
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
Am J Hum Genet
; 100(2): 216-227, 2017 02 02.
Artigo
Inglês
| MEDLINE | ID: mdl-28065471
8.
Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.
Mol Genet Metab
; 131(1-2): 135-146, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-33342467
9.
Screening for abnormal glycosylation in a cohort of adult liver disease patients.
J Inherit Metab Dis
; 43(6): 1310-1320, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32557671
10.
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.
Am J Hum Genet
; 98(2): 322-30, 2016 Feb 04.
Artigo
Inglês
| MEDLINE | ID: mdl-26833330
11.
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.
Am J Hum Genet
; 98(2): 310-21, 2016 Feb 04.
Artigo
Inglês
| MEDLINE | ID: mdl-26833332
12.
Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy.
Clin Chem
; 65(10): 1295-1306, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-31375477
13.
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
Am J Hum Genet
; 107(2): 374, 2020 08 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32763190
14.
Clinical glycomics for the diagnosis of congenital disorders of glycosylation.
J Inherit Metab Dis
; 41(3): 499-513, 2018 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29497882
15.
Unraveling the unknown areas of the human metabolome: the role of infrared ion spectroscopy.
J Inherit Metab Dis
; 41(3): 367-377, 2018 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29556837
16.
Multiple phenotypes in phosphoglucomutase 1 deficiency.
N Engl J Med
; 370(6): 533-42, 2014 Feb 06.
Artigo
Inglês
| MEDLINE | ID: mdl-24499211
17.
Oral D-galactose supplementation in PGM1-CDG.
Genet Med
; 19(11): 1226-1235, 2017 11.
Artigo
Inglês
| MEDLINE | ID: mdl-28617415
18.
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
Am J Hum Genet
; 93(1): 29-41, 2013 Jul 11.
Artigo
Inglês
| MEDLINE | ID: mdl-23768512
19.
Galectin-3-Binding Glycomimetics that Strongly Reduce Bleomycin-Induced Lung Fibrosis and Modulate Intracellular Glycan Recognition.
Chembiochem
; 17(18): 1759-70, 2016 09 15.
Artigo
Inglês
| MEDLINE | ID: mdl-27356186
20.
A common sugar-nucleotide-mediated mechanism of inhibition of (glycosamino)glycan biosynthesis, as evidenced by 6F-GalNAc (Ac3).
FASEB J
; 29(7): 2993-3002, 2015 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-25868729