Detalhe da pesquisa
1.
Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.
J Inherit Metab Dis
; 46(2): 326-334, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36719165
2.
ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings.
BMC Ophthalmol
; 21(1): 249, 2021 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34090370
3.
Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation.
Hum Mol Genet
; 27(17): 3029-3045, 2018 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29878199
4.
Severe phenotype of ATP6AP1-CDG in two siblings with a novel mutation leading to a differential tissue-specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation.
J Inherit Metab Dis
; 43(4): 694-700, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32216104
5.
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.
Brain
; 137(Pt 4): 1030-8, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24566669
6.
Isoelectric Focusing of Serum Apolipoprotein C-III as a Sensitive Screening Method for the Detection of O-glycosylation Disturbances.
Prague Med Rep
; 116(2): 73-86, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26093664
7.
Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient.
Neuro Endocrinol Lett
; 35(2): 137-41, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24878975
8.
Neurodevelopmental defects in a mouse model of O-GlcNAc transferase intellectual disability.
Dis Model Mech
; 17(4)2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38566589
9.
RFT1-CDG in adult siblings with novel mutations.
Mol Genet Metab
; 107(4): 760-2, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23111317
10.
Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency.
Mol Genet Metab
; 107(3): 611-3, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22959829
11.
Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I.
J Inherit Metab Dis
; 34(4): 901-6, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21431619
12.
Congenital disorders of glycosylation: Still "hot" in 2020.
Biochim Biophys Acta Gen Subj
; 1865(1): 129751, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32991969
13.
Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation.
Cell Metab
; 20(3): 448-57, 2014 Sep 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25066056
14.
Aberrant apolipoprotein C-III glycosylation in glycogen storage disease type III and IX.
Metabolism
; 82: 135-141, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29408683