Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.
about
Golgi post-translational modifications and associated diseases.Molecular subtyping and improved treatment of neurodevelopmental disease.Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23AATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.Clinical utility gene card for: MAN1B1 defective congenital disorder of glycosylation.Congenital disorders of glycosylation: new defects and still counting.Clinical diagnostics and therapy monitoring in the congenital disorders of glycosylationImmunological aspects of congenital disorders of glycosylation (CDG): a review.MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects.Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs.Clinical glycomics for the diagnosis of congenital disorders of glycosylation.Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family
P2860
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P2860
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年学术文章
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2014年学术文章
@zh-cn
2014年学术文章
@zh-hans
2014年学术文章
@zh-my
2014年学术文章
@zh-sg
2014年學術文章
@yue
2014年學術文章
@zh
2014年學術文章
@zh-hant
name
Diagnostic serum glycosylation ...... a result of MAN1B1 deficiency.
@en
Diagnostic serum glycosylation ...... a result of MAN1B1 deficiency.
@nl
type
label
Diagnostic serum glycosylation ...... a result of MAN1B1 deficiency.
@en
Diagnostic serum glycosylation ...... a result of MAN1B1 deficiency.
@nl
prefLabel
Diagnostic serum glycosylation ...... a result of MAN1B1 deficiency.
@en
Diagnostic serum glycosylation ...... a result of MAN1B1 deficiency.
@nl
P2093
P2860
P50
P356
P1433
P1476
Diagnostic serum glycosylation ...... a result of MAN1B1 deficiency.
@en
P2093
Alexander Hoischen
Anil Jalan
Anna Kattentidt-Mouravieva
Daisy Rymen
Dirk J Lefeber
Eva Morava
George Ruijter
Hana Hansikova
Jaime Moritz Brum
Mary-Louise Freckmann
P2860
P304
P356
10.1093/BRAIN/AWU019
P407
P50
P577
2014-02-24T00:00:00Z