The neurology of rhizomelic chondrodysplasia punctata (Q34493856)

2 August 2017

title

The neurology of rhizomelic chondrodysplasia punctata (English)

1 reference

2 August 2017

author name string

Annemieke M Bams-Mengerink

1

1 reference

2 August 2017

Johannes Htm Koelman

2

1 reference

2 August 2017

Hans Waterham

3

1 reference

2 August 2017

Peter G Barth

4

1 reference

2 August 2017

Bwee Tien Poll-The

5

1 reference

2 August 2017

publication date

30 October 2013

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Orphanet Journal of Rare Diseases

2 August 2017

published in

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2 August 2017

volume

8

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2 August 2017

page(s)

174

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The importance of ether-phospholipids: a view from the perspective of mouse models.

2 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4228450

Functions of plasmalogen lipids in health and disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4228450

Alkyl-glycerol rescues plasmalogen levels and pathology of ether-phospholipid deficient mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4228450

Blind sterile 2 (bs2), a hypomorphic mutation in Agps, results in cataracts and male sterility in mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4228450

A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4228450

MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4228450

Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4228450

Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4228450

Inactivation of ether lipid biosynthesis causes male infertility, defects in eye development and optic nerve hypoplasia in mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4228450

Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4228450

Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4228450

Epilepsy in peroxisomal diseases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4228450

Rhizomelic chondrodysplasia punctata: report of a case with review of the literature and correlation with other peroxisomal disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4228450

Rhizomelic chondrodysplasia punctata: another peroxisomal disorder.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4228450

Rhizomelic chondrodysplasia punctata: 16-year follow-up of a child from birth.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4228450

Assay of plasmalogens and polyunsaturated fatty acids (PUFA) in erythrocytes and fibroblasts

6 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-174

Measurement of very long-chain fatty acids, phytanic and pristanic acid in plasma and cultured fibroblasts by gas chromatography

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-174

Interobserver variation in the interpretation of SSEPs in anoxic-ischaemic coma

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-174

Natural history of rhizomelic chondrodysplasia punctata.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-174

Cerebellar atrophy in chronic rhizomelic chondrodysplasia punctata: a potential role for phytanic acid and calcium in the death of its Purkinje cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-174

Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4228450

Rapid synthesis and turnover of brain microsomal ether phospholipids in the adult rat.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4228450

Variant rhizomelic chondrodysplasia punctata (RCDP) with normal plasma phytanic acid: clinico-biochemical delineation of a subtype and complementation studies

27 October 2018

1 reference

12 December 2020

Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: a peroxisomal entity amenable to plasmapheresis

1 reference

12 December 2020

Heterogeneity of Chondrodysplasia punctata

1 reference

12 December 2020

[Bilateral cataract in childhood years: always an indication for screening on a metabolic disorder]

1 reference

12 December 2020

Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-8-174

1 reference

Dimensions Publication ID

2 August 2017

0 references

1 reference

2 August 2017

1 reference