Detalhe da pesquisa
1.
Distinct immunometabolic signatures in circulating immune cells define disease outcome in acute-on-chronic liver failure.
Hepatology
; 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38761406
2.
Dysregulated proteome and N-glycoproteome in ALG1-deficient fibroblasts.
Proteomics
; : e2400012, 2024 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38470198
3.
Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder.
Am J Hum Genet
; 108(6): 1151-1160, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33979636
4.
Liposome-encapsulated mannose-1-phosphate therapy improves global N-glycosylation in different congenital disorders of glycosylation.
Mol Genet Metab
; 142(2): 108487, 2024 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38733638
5.
D-mannose as a new therapy for fucokinase deficiency-related congenital disorder of glycosylation (FCSK-CDG).
Mol Genet Metab
; 142(2): 108488, 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38735264
6.
ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines.
Mol Genet Metab
; 142(2): 108472, 2024 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38703411
7.
The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG.
Am J Hum Genet
; 104(5): 835-846, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30982613
8.
TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability.
Genet Med
; 24(4): 894-904, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35042660
9.
Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications.
Ann Neurol
; 90(6): 887-900, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34652821
10.
Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation.
Mol Genet Metab
; 132(1): 27-37, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33129689
11.
A new D-galactose treatment monitoring index for PGM1-CDG.
J Inherit Metab Dis
; 44(5): 1263-1271, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34043239
12.
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
J Inherit Metab Dis
; 44(1): 148-163, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32681750
13.
Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.
J Inherit Metab Dis
; 43(4): 671-693, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32266963
14.
Metabolic Flux Analysis: Moving beyond Static Metabolomics.
Trends Biochem Sci
; 45(6): 545-546, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32413328
15.
Microenvironmental control of glucose metabolism in tumors by regulation of pyruvate dehydrogenase.
Int J Cancer
; 144(4): 674-686, 2019 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30121950
16.
Central nervous involvement is common in PGM1-CDG.
Mol Genet Metab
; 125(3): 200-204, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30262252
17.
The role of PGM1isoform 2 in PGM1-CDG: One step closer to genotype-phenotype correlation?
J Inherit Metab Dis
; 46(2): 159-160, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36843136
18.
Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models.
Cell Rep
; 43(3): 113883, 2024 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38430517
19.
A complement C4-derived glycopeptide is a biomarker for PMM2-CDG.
JCI Insight
; 9(7)2024 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38587076
20.
Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series.
Ther Adv Rare Dis
; 4: 26330040221150269, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37181075