Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.
about
Neurological aspects of human glycosylation disordersALG1-CDG: Clinical and Molecular Characterization of 39 Unreported PatientsDiagnostic approach to microcephaly in childhood: a two-center study and review of the literature.Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG.Quantitative Genetics of Food Intake in Drosophila melanogaster.Clinical utility gene card for: ALG1 defective congenital disorder of glycosylationDefining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation.Immunological aspects of congenital disorders of glycosylation (CDG): a review.Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG.Identification and characterization of transcriptional control region of the human beta 1,4-mannosyltransferase gene.Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation.Congenital disorders of glycosylation: The Saudi experience.
P2860
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P2860
Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.
@en
type
label
Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.
@en
prefLabel
Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.
@en
P2093
P50
P921
P356
P1433
P1476
Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.
@en
P2093
Chike B Item
Dirk J Lefeber
Eva Morava
Ivana Mihalek
Ludwig Lehle
Maciej Adamowicz
Olaf A Bodamer
Ron A Wevers
Silvia Lechner
Sylvia Stockler
P304
P356
10.1542/PEDS.2011-2711
P407
P577
2012-09-10T00:00:00Z