Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype.

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Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

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Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype.

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Dolichol kinase deficiency

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Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype.

@en

Dolichol kinase deficiency

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Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype.

@en

Dolichol kinase deficiency

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P1476

Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype.

@en

P2093

Craig V Baker

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William B Rizzo

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P2860

Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism

A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy

A method and server for predicting damaging missense mutations

Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

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

Genetic defects in dolichol metabolism.

A zebrafish model of PMM2-CDG reveals altered neurogenesis and a substrate-accumulation mechanism for N-linked glycosylation deficiency.

Understanding human glycosylation disorders: biochemistry leads the charge.

From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)

P304

2428-2434

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P31

scholarly article

P356

10.1002/AJMG.A.38287

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P407

English

P433

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P478

173

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P50

Eric T Rush

P577

2017-09-01T00:00:00Z

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P698

28816422

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