Detalhe da pesquisa
1.
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
2.
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
3.
Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations.
J Clin Immunol
; 41(5): 958-966, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33534079
4.
A Genome-Wide CRISPR-Cas9 Screen Identifies the Dolichol-Phosphate Mannose Synthase Complex as a Host Dependency Factor for Dengue Virus Infection.
J Virol
; 94(7)2020 03 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-31915280
5.
Influence of the environmental relative humidity on the inflammatory response of skin model after exposure to various environmental pollutants.
Environ Res
; 196: 110350, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33144047
6.
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
7.
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
8.
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
9.
Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?
Genet Med
; 21(5): 1181-1188, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30293989
10.
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
11.
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
12.
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
13.
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
14.
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
15.
Early polysensitization is associated with allergic multimorbidity in PARIS birth cohort infants.
Pediatr Allergy Immunol
; 27(8): 831-837, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27501330
16.
ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.
J Inherit Metab Dis
; 39(5): 713-723, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27287710
17.
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
18.
Catalase activity, allelic variations in the catalase gene and risk of kidney complications in patients with type 1 diabetes.
Diabetologia
; 56(12): 2733-42, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24057136
19.
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
Brain
; 135(Pt 2): 469-82, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22323514
20.
Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.
J Inherit Metab Dis
; 39(5): 759, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27498540