(Q38311780)

2 September 2017

Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation (English)

1 reference

2 September 2017

0 references

1 reference

Hudson H Freeze

9

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author name string

Michelle T Lieu

1

1 reference

2 September 2017

Bobby G Ng

2

1 reference

2 September 2017

Jeffrey S Rush

3

1 reference

2 September 2017

Tim Wood

4

1 reference

2 September 2017

Monica J Basehore

5

1 reference

2 September 2017

Madhuri Hegde

6

1 reference

2 September 2017

Richard C Chang

7

1 reference

2 September 2017

Jose E Abdenur

8

1 reference

2 September 2017

Raymond Y Wang

10

1 reference

2 September 2017

4 October 2013

1 reference

Molecular Genetics and Metabolism

2 September 2017

1 reference

2 September 2017

110

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2 September 2017

4

1 reference

2 September 2017

484-489

1 reference

Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy

2 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3909743

Neurology of inherited glycosylation disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3909743

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3909743

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3909743

Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3909743

From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3909743

A method and server for predicting damaging missense mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3909743

Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2I

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3909743

Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3909743

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3909743

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3909743

The congenital disorders of glycosylation: a multifaceted group of syndromes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3909743

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3909743

DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3909743

Dolichol kinase, phosphatase, and esterase activity in calf brain

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3909743

A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3909743

10.1016/J.YMGME.2013.09.016

31 August 2018

Identifiers

DOI

1 reference

2 September 2017

1 reference

2 September 2017

PubMed publication ID

24144945

1 reference