(Q36433297)

14 August 2017

Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping (English)

1 reference

congenital disorder of glycosylation

14 August 2017

0 references

1 reference

1 reference

1 reference

1 reference

1 reference

Faiqa Imtiaz

1

1 reference

PMCID

3509848

14 August 2017

Abeer Al-Mostafa

series ordinal

2

1 reference

PMCID

3509848

14 August 2017

Zuhair N Al-Hassnan

series ordinal

3

1 reference

14 August 2017

6 September 2011

1 reference

Journal of Inherited Metabolic Disorders Reports

14 August 2017

1 reference

14 August 2017

2

1 reference

14 August 2017

107-111

1 reference

Congenital disorders of glycosylation

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509848

Mutations in TPM3 are a common cause of congenital fiber type disproportion

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509848

Genetic defects in the human glycome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509848

Quantification of homozygosity in consanguineous individuals with autosomal recessive disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509848

SEPN1: associated with congenital fiber-type disproportion and insulin resistance

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509848

Congenital fiber type disproportion--30 years on.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509848

Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509848

A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509848

A simple salting out procedure for extracting DNA from human nucleated cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509848

Association of Krabbe leukodystrophy and congenital fiber type disproportion.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509848

A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509848

RYR1 mutations are a common cause of congenital myopathies with central nuclei

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509848

Actin mutations are one cause of congenital fibre type disproportion

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509848

Idiopathic lactic acidemia with developmental delay and type 1 muscle fiber atrophy: report of two patients.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509848

Is congenital fibre type disproportion a true myopathy?

21 September 2018

1 reference

12 December 2020

[A case of multiple sulfatase deficiency with fiber type disproportion]

1 reference

12 December 2020

Fiber type disproportion in metachromatic leukodystrophy

1 reference

12 December 2020

Atypical presentation of carnitine palmitoyltransferase (CPT) deficiency as status epilepticus

1 reference

12 December 2020

Identifiers

DOI

10.1007/8904_2011_57

1 reference

14 August 2017

1 reference

14 August 2017

1 reference

PMCID

3509848