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.
Dysregulated proteome and N-glycoproteome in ALG1-deficient fibroblasts.
Proteomics
; : e2400012, 2024 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38470198
3.
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.
Hum Genet
; 143(5): 649-666, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38538918
4.
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
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.
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Am J Hum Genet
; 108(6): 1053-1068, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33909990
7.
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
Am J Hum Genet
; 108(9): 1669-1691, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34314705
8.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Am J Hum Genet
; 108(3): 502-516, 2021 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33596411
9.
Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions.
Genet Med
; 26(2): 101027, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37955240
10.
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
11.
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
12.
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
13.
TRAPPC11-CDG muscular dystrophy: Review of 54 cases including a novel patient.
Mol Genet Metab
; 142(1): 108469, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38564972
14.
Antidepressants that increase mitochondrial energetics may elevate risk of treatment-emergent mania.
Mol Psychiatry
; 28(3): 1020-1026, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36513812
15.
Early role for a Na+,K+-ATPase (ATP1A3) in brain development.
Proc Natl Acad Sci U S A
; 118(25)2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34161264
16.
Liver transplantation recovers hepatic N-glycosylation with persistent IgG glycosylation abnormalities: Three-year follow-up in a patient with phosphomannomutase-2-congenital disorder of glycosylation.
Mol Genet Metab
; 138(4): 107559, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36965289
17.
Retrospective study of propionic acidemia using natural language processing in Mayo Clinic electronic health record data.
Mol Genet Metab
; 140(3): 107695, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37708666
18.
Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases.
Mol Genet Metab
; 140(3): 107688, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37647829
19.
Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation.
Mol Genet Metab
; 139(2): 107606, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37224763
20.
Long-term outcomes in ALG13-Congenital Disorder of Glycosylation.
Am J Med Genet A
; 191(6): 1626-1631, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36930724