ALG9-CDG: New clinical case and review of the literature.

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ALG9-CDG: New clinical case and review of the literature.

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2017 nî lūn-bûn

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2017年の論文

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2017年論文

@yue

2017年論文

@zh-hant

2017年論文

@zh-hk

2017年論文

@zh-mo

2017年論文

@zh-tw

2017年论文

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2017年论文

@zh

2017年论文

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name

ALG9-CDG: New clinical case and review of the literature.

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ALG9-CDG: New clinical case and review of the literature.

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ALG9-CDG: New clinical case and review of the literature.

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P1476

ALG9-CDG: New clinical case and review of the literature.

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P2093

Chris Smith

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David Sinasac

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Duncan Webster

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Julian Midgley

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Kellie Davis

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Lorne Seargeant

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Miao He

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Patrick Ferreira

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Sheryl Jackson

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Xing-Chang Wei

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P2860

Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL.

The congenital disorders of glycosylation: a multifaceted group of syndromes.

Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient.

Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration

Evolutionarily conserved glycan signal to degrade aberrant brassinosteroid receptors in Arabidopsis.

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9

Recommendations for the Generation, Quantification, Storage, and Handling of Peptides Used for Mass Spectrometry-Based Assays

Further Delineation of the ALG9-CDG Phenotype.

Direct immunofixation after isoelectric focusing. An improved method for identification of cerebrospinal fluid and serum proteins.

Serum N-glycan and O-glycan analysis by mass spectrometry for diagnosis of congenital disorders of glycosylation.

P304

55-63

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P31

scholarly article

case report

P356

10.1016/J.YMGMR.2017.08.004

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P478

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P50

W Al-Hertani

P577

2017-09-06T00:00:00Z

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P698

28932688

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P932

5596360

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