Detalhe da pesquisa
1.
A patient-based medaka alg2 mutant as a model for hypo-N-glycosylation.
Development
; 148(11)2021 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34106226
2.
Targeted Proteomics Reveals Quantitative Differences in Low-Abundance Glycosyltransferases of Patients with Congenital Disorders of Glycosylation.
Int J Mol Sci
; 25(2)2024 Jan 18.
Artigo
Inglês
| MEDLINE | ID: mdl-38256263
3.
Quantification of Dolichyl Phosphates Using Phosphate Methylation and Reverse-Phase Liquid Chromatography-High Resolution Mass Spectrometry.
Anal Chem
; 95(6): 3210-3217, 2023 02 14.
Artigo
Inglês
| MEDLINE | ID: mdl-36716239
4.
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria.
J Inherit Metab Dis
; 44(5): 1272-1287, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34145613
5.
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
Inglês
| MEDLINE | ID: mdl-31067009
6.
A rapid and simple procedure for the isolation and cultivation of fibroblast-like cells from medaka and zebrafish embryos and fin clip biopsies.
Lab Anim
; 56(3): 270-278, 2022 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-34551636
7.
Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects.
Mol Genet Metab Rep
; 25: 100673, 2020 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-33209585