(Q42253573)

19 October 2017

title

Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation (English)

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Dolichol kinase deficiency

19 October 2017

main subject

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5

Maud Eriksson

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19 October 2017

Anders Helander

1

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19 October 2017

Tommy Stödberg

2

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19 October 2017

Jaak Jaeken

3

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19 October 2017

Gert Matthijs

4

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19 October 2017

Gösta Eggertsen

6

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19 October 2017

publication date

10 July 2013

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Molecular Genetics and Metabolism

19 October 2017

published in

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19 October 2017

volume

110

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19 October 2017

issue

3

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19 October 2017

page(s)

342-344

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Congenital disorders of glycosylation

19 October 2017

cites work

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.07.002

Congenital disorders of glycosylation (CDG): it's (nearly) all in it!

7 January 2021

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Congenital disorders of glycosylation: sweet news

7 January 2021

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7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.07.002

CDG nomenclature: time for a change!

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.07.002

How to find and diagnose a CDG due to defective N-glycosylation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.07.002

Testing for congenital disorders of glycosylation by HPLC measurement of serum transferrin glycoforms

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.07.002

Diagnosis of congenital disorders of glycosylation by capillary zone electrophoresis of serum transferrin

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.07.002

Mass spectrometry in the detection and diagnosis of congenital disorders of glycosylation

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.07.002

A new capillary zone electrophoresis method for the screening of congenital disorders of glycosylation (CDG)

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.07.002

Toward standardization of carbohydrate-deficient transferrin (CDT) measurements: I. Analyte definition and proposal of a candidate reference method.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.07.002

Infantile spasms: a U.S. consensus report.

7 January 2021

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Improved HPLC method for carbohydrate-deficient transferrin in serum

7 January 2021

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Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function

7 January 2021

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Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.07.002

RFT1 deficiency in three novel CDG patients

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.07.002

A novel COL4A3 mutation causes autosomal-recessive Alport syndrome in a large Turkish family

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.07.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.07.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.07.002

Update 2011: clinical and genetic issues in familial dilated cardiomyopathy

7 January 2021

1 reference

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.07.002

10.1016/J.YMGME.2013.07.002

7 January 2021

Identifiers

DOI

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19 October 2017

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