Detalhe da pesquisa
1.
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
Inglês
| MEDLINE | ID: mdl-34653363
2.
Glycosphingolipids in congenital disorders of glycosylation (CDG).
Mol Genet Metab
; 142(1): 108434, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38489976
3.
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.
J Inherit Metab Dis
; 46(2): 300-312, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36651831
4.
The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG.
Am J Hum Genet
; 104(5): 835-846, 2019 05 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30982613
5.
TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability.
Genet Med
; 24(4): 894-904, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35042660
6.
Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications.
Ann Neurol
; 90(6): 887-900, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34652821
7.
Cystic fibrosis and alpha-1 antitrypsin deficiency: case report and review of literature.
BMC Pediatr
; 22(1): 247, 2022 05 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35505316
8.
Transcriptomic analysis of CFTR-impaired endothelial cells reveals a pro-inflammatory phenotype.
Eur Respir J
; 57(4)2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33184117
9.
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?
Mol Genet Metab
; 133(4): 397-399, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34140212
10.
Congenital Extrahepatic Portosystemic Shunts (Abernethy Malformation): An International Observational Study.
Hepatology
; 71(2): 658-669, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31211875
11.
Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy.
Clin Genet
; 100(4): 453-461, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34165204
12.
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
Inglês
| MEDLINE | ID: mdl-32681750
13.
Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update.
Genet Med
; 22(2): 268-279, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31534212
14.
Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG.
Genet Med
; 22(6): 1102-1107, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32103184
15.
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.
Genet Med
; 22(5): 908-916, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31904027
16.
Normal liver stiffness and influencing factors in healthy children: An individual participant data meta-analysis.
Liver Int
; 40(11): 2602-2611, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32901449
17.
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
Inglês
| MEDLINE | ID: mdl-32266963
18.
Fulminant Wilson Disease in Children: Recovery After Plasma Exchange Without Transplantation.
J Pediatr Gastroenterol Nutr
; 71(6): 720-725, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-32804913
19.
Hypophosphatasia in Adults: Clinical Spectrum and Its Association With Genetics and Metabolic Substrates.
J Clin Densitom
; 23(3): 340-348, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-30655187
20.
Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?
Genet Med
; 21(5): 1181-1188, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30293989