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1.
Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.
J Inherit Metab Dis
; 45(4): 769-781, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35279850
2.
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.
Article
in English
| MEDLINE | ID: mdl-29878199
3.
Clinical glycomics for the diagnosis of congenital disorders of glycosylation.
J Inherit Metab Dis
; 41(3): 499-513, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29497882
4.
Oral D-galactose supplementation in PGM1-CDG.
Genet Med
; 19(11): 1226-1235, 2017 11.
Article
in English
| MEDLINE | ID: mdl-28617415
5.
A mutation in mannose-phosphate-dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy.
JIMD Rep
; 50(1): 31-39, 2019 Nov.
Article
in English
| MEDLINE | ID: mdl-31741824
6.
Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency.
Transl Res
; 199: 62-76, 2018 09.
Article
in English
| MEDLINE | ID: mdl-30048639
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