Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
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
5.
Patient-reported outcomes and quality of life in PMM2-CDG.
Mol Genet Metab
; 136(2): 145-151, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35491370
6.
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
7.
Use of Mobile and Wearable Artificial Intelligence in Child and Adolescent Psychiatry: Scoping Review.
J Med Internet Res
; 24(3): e33560, 2022 03 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35285812
8.
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
9.
Pathogenic DDOST Variant Is Associated with Humoral Immune Deficiency.
J Clin Immunol
; 43(4): 692-694, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36631682
10.
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
11.
From periphery immunity to central domain through clinical interview as a new insight on schizophrenia.
Sci Rep
; 14(1): 5755, 2024 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38459093
12.
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
13.
The Association of the Oral Microbiota with the Effects of Acid Stress Induced by an Increase of Brain Lactate in Schizophrenia Patients.
Biomedicines
; 11(2)2023 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36830777
14.
Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG.
Genes (Basel)
; 14(8)2023 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37628636
15.
Tracer metabolomics reveals the role of aldose reductase in glycosylation.
Cell Rep Med
; 4(6): 101056, 2023 06 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37257447
16.
Could distal variants in ALG13 lead to atypical clinical presentation?
Eur J Med Genet
; 65(4): 104473, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35240324
17.
The Assessment of Endovascular Therapies in Ischemic Stroke: Management, Problems and Future Approaches.
J Clin Med
; 11(7)2022 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35407472
18.
Genotype-Phenotype Correlations in PMM2-CDG.
Genes (Basel)
; 12(11)2021 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34828263
19.
A Systematic Review of Neuromodulation Treatment Effects on Suicidality.
Front Hum Neurosci
; 15: 660926, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34248523
20.
A systematic review of microbiome changes and impact of probiotic supplementation in children and adolescents with neuropsychiatric disorders.
Prog Neuropsychopharmacol Biol Psychiatry
; 108: 110187, 2021 06 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33271210