A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9
about
Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG.Further Delineation of the ALG9-CDG Phenotype.Abnormal glycosylation in Joubert syndrome type 10.Isolated polycystic liver disease genes define effectors of polycystin-1 function.What is new in CDG?Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature.ALG9-CDG: New clinical case and review of the literature.Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs.A human case of SLC35A3-related skeletal dysplasia.Aberrant mannosylation profile and FTX/miR-342/ALG3-axis contribute to development of drug resistance in acute myeloid leukemia.
P2860
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P2860
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9
description
2015 nî lūn-bûn
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2015年の論文
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年學術文章
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2015年學術文章
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name
A novel phenotype in N-glycosy ...... to pathogenic variants in ALG9
@ast
A novel phenotype in N-glycosy ...... to pathogenic variants in ALG9
@en
type
label
A novel phenotype in N-glycosy ...... to pathogenic variants in ALG9
@ast
A novel phenotype in N-glycosy ...... to pathogenic variants in ALG9
@en
prefLabel
A novel phenotype in N-glycosy ...... to pathogenic variants in ALG9
@ast
A novel phenotype in N-glycosy ...... to pathogenic variants in ALG9
@en
P2093
P2860
P50
P356
P1476
A novel phenotype in N-glycosy ...... to pathogenic variants in ALG9
@en
P2093
Anna Hammarsjö
Anna Wedell
Erik A Eklund
Gen Nishimura
Gintautas Grigelionis
Helena Malmgren
Katarzyna Zielinska
Kristina Lagerstedt-Robinson
Margareta Albåge
Nikos Papadogiannakis
P2860
P2888
P304
P356
10.1038/EJHG.2015.91
P577
2015-05-13T00:00:00Z