Detalhe da pesquisa
1.
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.
Cell
; 2024 May 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38821050
2.
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.
Cell
; 2024 Jun 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38870945
3.
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
4.
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
5.
Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management.
Mol Genet Metab
; 140(3): 107674, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37542768
6.
Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implications.
Hum Mutat
; 42(2): 142-149, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33300232
7.
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).
Hum Genet
; 139(10): 1325-1343, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32399598
8.
Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies.
J Inherit Metab Dis
; 43(6): 1349-1359, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32700771
9.
Long term outcome of MPI-CDG patients on D-mannose therapy.
J Inherit Metab Dis
; 43(6): 1360-1369, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33098580
10.
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
11.
Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus.
Hum Mutat
; 40(7): 938-951, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31067009
12.
Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient.
Pediatr Res
; 85(3): 384-389, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30420707
13.
CCDC115-CDG: A new rare and misleading inherited cause of liver disease.
Mol Genet Metab
; 124(3): 228-235, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29759592
14.
A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome.
Ann Neurol
; 82(1): 133-138, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28556183
15.
Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation.
Electrophoresis
; 39(24): 3123-3132, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29869806
16.
Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.
J Med Genet
; 54(12): 843-851, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28954837
17.
Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.
Dev Med Child Neurol
; 58(10): 1085-91, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27172925
18.
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.
Am J Hum Genet
; 91(6): 1135-43, 2012 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23217329
19.
Mutations in SLC2A2 gene reveal hGLUT2 function in pancreatic ß cell development.
J Biol Chem
; 288(43): 31080-92, 2013 Oct 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-23986439
20.
Efficacy of oral manganese and D-galactose therapy in a patient bearing a novel TMEM165 variant.
Transl Res
; 266: 57-67, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38013006