Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.

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cis-Prenyltransferase: New Insights into Protein Glycosylation, Rubber Synthesis, and Human Diseases.Asparagine Synthetase deficiency-report of a novel mutation and review of literature.PMM2-CDG and sensorineural hearing loss.Congenital disorders of glycosylation: The Saudi experience.

P2860

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P2860

Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.

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http://www.wikidata.org/entity/Q41924751

description

2016 nî lūn-bûn

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2016年の論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年论文

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2016年论文

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2016年论文

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name

Congenital disorders of glycos ...... g partial seizures in infancy.

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type

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Congenital disorders of glycos ...... g partial seizures in infancy.

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Congenital disorders of glycos ...... g partial seizures in infancy.

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P1476

Congenital disorders of glycos ...... g partial seizures in infancy.

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P2093

CDG Group

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Dirk J Lefeber

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Elena Procopio

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Liesbeth Keldermans

http://www.w3.org/2001/XMLSchema#string

Renzo Guerrini

http://www.w3.org/2001/XMLSchema#string

Sandrine Vuillaumier-Barrot

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P2860

Neurological aspects of human glycosylation disorders

A method and server for predicting damaging missense mutations

Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.

An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id)

Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.

Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik.

RFT1 deficiency in three novel CDG patients

Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.

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1085-1091

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scholarly article

P356

10.1111/DMCN.13141

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2016-05-13T00:00:00Z

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27172925

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P921

birth defect

glycosylation

Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.

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P2860

P2860

Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.

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P1433

P1476

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P2860

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P698

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P2860

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P921