Detalhe da pesquisa
1.
MOGS-CDG: Quantitative analysis of the diagnostic Glc3 Man tetrasaccharide and clinical spectrum of six new cases.
J Inherit Metab Dis
; 46(2): 313-325, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36651519
2.
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
em Inglês
| MEDLINE | ID: mdl-32681750
3.
Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.
J Inherit Metab Dis
; 42(3): 553-564, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30746764
4.
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
5.
Three families with mild PMM2-CDG and normal cognitive development.
Am J Med Genet A
; 173(6): 1620-1624, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28425223
6.
Follow-up study of 2-year-olds born at very low gestational age in Estonia.
Acta Paediatr
; 102(3): 300-7, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23176138
7.
The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases.
Front Genet
; 12: 719437, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34447415
8.
Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5.
Nat Commun
; 12(1): 6227, 2021 10 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34711829
9.
A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016.
Eur J Hum Genet
; 27(11): 1649-1658, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31186545
10.
High incidence of low vitamin B12 levels in Estonian newborns.
Mol Genet Metab Rep
; 15: 1-5, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29387561
11.
The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients.
JIMD Rep
; 39: 13-17, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-28685491
12.
The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome.
Genet Test Mol Biomarkers
; 19(12): 684-91, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26505556
13.
Familial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann Syndromes.
Mol Syndromol
; 6(3): 147-51, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26732610
14.
Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene.
Eur J Hum Genet
; 22(11): 1327-9, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24569609