Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation
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Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech.Advancing epilepsy genetics in the genomic eraNeurological aspects of human glycosylation disordersThe Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and OpportunitiesUDP-galactose and acetyl-CoA transporters as Plasmodium multidrug resistance genesCCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein GlycosylationSPTAN1 encephalopathy: distinct phenotypes and genotypes.Golgi post-translational modifications and associated diseases.Novel genetic causes for cerebral visual impairmentMass spectrometry of transferrin and apolipoprotein C-III for diagnosis and screening of congenital disorder of glycosylation.Expanding the Molecular and Clinical Phenotype of SSR4-CDG.SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation.Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs)Solving glycosylation disorders: fundamental approaches reveal complicated pathways.Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation.Congenital disorders of glycosylation: new defects and still counting.Structure and function of nucleotide sugar transporters: Current progress.Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review.De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy.What is new in CDG?Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.Analysis and annotation of whole-genome or whole-exome sequencing-derived variants for clinical diagnosis.Defective SLC35A2 causes congenital disorder of glycosylation 2M (CDG2M)Analysis and Annotation of Whole-Genome or Whole-Exome Sequencing Derived Variants for Clinical Diagnosis.Inherited Disorders of Manganese Metabolism.SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy.Defective SLC35A2 does not exchange UDP-Gal; UDP-GalNAc for UMPIdentification of novel genetic causes of Rett syndrome-like phenotypes.A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach.PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.CDG Therapies: From Bench to Bedside.Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy.Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report.Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1
P2860
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P2860
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
Mosaicism of the UDP-galactose ...... ital disorder of glycosylation
@ast
Mosaicism of the UDP-galactose ...... ital disorder of glycosylation
@en
type
label
Mosaicism of the UDP-galactose ...... ital disorder of glycosylation
@ast
Mosaicism of the UDP-galactose ...... ital disorder of glycosylation
@en
prefLabel
Mosaicism of the UDP-galactose ...... ital disorder of glycosylation
@ast
Mosaicism of the UDP-galactose ...... ital disorder of glycosylation
@en
P2093
P2860
P50
P1476
Mosaicism of the UDP-galactose ...... ital disorder of glycosylation
@en
P2093
Alexey Eroshkin
Bobby G Ng
Deborah A Nickerson
Joshua D Smith
Kati J Buckingham
Kimiyo Raymond
Marie E Losfeld
Mariya Kozenko
Marta Szybowska
P2860
P304
P356
10.1016/J.AJHG.2013.03.012
P407
P50
P577
2013-04-01T00:00:00Z