Detalhe da pesquisa
1.
Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA : Report of a new patient and review of the literature.
Neurogenetics
; 2024 Mar 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38498292
2.
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
3.
Possible role of tryptophan metabolism along the microbiota-gut-brain axis on cognitive & behavioral aspects in Phenylketonuria.
Pharmacol Res
; 197: 106952, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37804926
4.
Defective IGF-1 prohormone N-glycosylation and reduced IGF-1 receptor signaling activation in congenital disorders of glycosylation.
Cell Mol Life Sci
; 79(3): 150, 2022 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35211808
5.
Symptoms compatible with long COVID in an Italian pediatric cohort of Tourette patients with and without SARSCoV2 infection: a short-term follow-up assessment.
BMC Pediatr
; 23(1): 222, 2023 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37147589
6.
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
7.
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?
Mol Genet Metab
; 133(4): 397-399, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34140212
8.
HILIC-UPLC-MS for high throughput and isomeric N-glycan separation and characterization in Congenital Disorders Glycosylation and human diseases.
Glycoconj J
; 38(2): 201-211, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32915358
9.
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG).
Cerebellum
; 20(4): 596-605, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33619652
10.
Epilepsy and movement disorders in CDG: Report on the oldest-known MOGS-CDG patient.
Am J Med Genet A
; 185(1): 219-222, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33058492
11.
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
12.
N-Glycomics of Human Erythrocytes.
Int J Mol Sci
; 22(15)2021 Jul 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34360826
13.
Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG.
Genet Med
; 22(6): 1102-1107, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32103184
14.
A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of N-glycosylation (CDG).
Clin Chem Lab Med
; 59(1): 165-171, 2020 08 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32776892
15.
Potential Associations Among Alteration of Salivary miRNAs, Saliva Microbiome Structure, and Cognitive Impairments in Autistic Children.
Int J Mol Sci
; 21(17)2020 Aug 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32867322
16.
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Hum Mutat
; 40(7): 908-925, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30817854
17.
ALG12-CDG: novel glycophenotype insights endorse the molecular defect.
Glycoconj J
; 36(6): 461-472, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31529350
18.
Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.
J Inherit Metab Dis
; 42(3): 553-564, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30746764
19.
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
J Inherit Metab Dis
; 42(1): 5-28, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740725
20.
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.
Eur J Pediatr
; 178(5): 739-753, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30809705