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.
GLUT1 is a highly efficient L-fucose transporter.
J Biol Chem
; 299(1): 102738, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36423686
3.
CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking.
Hum Mol Genet
; 31(15): 2571-2581, 2022 08 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35262690
4.
A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.
Am J Hum Genet
; 108(6): 1040-1052, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33964207
5.
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
6.
Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology.
Mol Genet Metab
; 142(1): 108476, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38653092
7.
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
8.
Neurological aspects of human glycosylation disorders.
Annu Rev Neurosci
; 38: 105-25, 2015 Jul 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25840006
9.
DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype.
J Inherit Metab Dis
; 46(1): 92-100, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36214423
10.
Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.
J Inherit Metab Dis
; 46(2): 326-334, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36719165
11.
Beyond genetics: Deciphering the impact of missense variants in CAD deficiency.
J Inherit Metab Dis
; 46(6): 1170-1185, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37540500
12.
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.
J Inherit Metab Dis
; 46(2): 300-312, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36651831
13.
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.
J Inherit Metab Dis
; 46(6): 1195-1205, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37711075
14.
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.
J Med Genet
; 2022 Jul 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35790351
15.
A recurrent homozygous missense DPM3 variant leads to muscle and brain disease.
Clin Genet
; 102(6): 530-536, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35932216
16.
ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines.
J Inherit Metab Dis
; 45(5): 969-980, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35716054
17.
Perspectives on Glycosylation and Its Congenital Disorders.
Trends Genet
; 34(6): 466-476, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29606283
18.
Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation.
Am J Hum Genet
; 103(6): 1030-1037, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30503518
19.
Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation.
Am J Hum Genet
; 102(1): 188-195, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29304374
20.
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
Am J Hum Genet
; 103(4): 553-567, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30290151