(Q54656357)

2 June 2018

title

Rhizomelic chondrodysplasia punctata and cardiac pathology. (English)

1 reference

2 June 2018

rhizomelic chondrodysplasia punctata

main subject

1 reference

5

Ronald J A Wanders

1 reference

2 June 2018

author name string

Irene C Huffnagel

1

1 reference

2 June 2018

Sally-Ann B Clur

2

1 reference

2 June 2018

Annemieke M Bams-Mengerink

3

1 reference

2 June 2018

Nico A Blom

4

1 reference

2 June 2018

Hans R Waterham

6

1 reference

2 June 2018

Bwee Tien Poll-The

7

1 reference

2 June 2018

language of work or name

English

0 references

publication date

9 April 2013

1 reference

2 June 2018

Journal of Medical Genetics

published in

1 reference

2 June 2018

volume

50

1 reference

2 June 2018

issue

7

1 reference

2 June 2018

page(s)

419-424

1 reference

2 June 2018

Chondrodysplasia punctata: a clinical diagnostic and radiological review

cites work

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101536

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101536

Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101536

Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101536

Alkyl-dihydroxyacetonephosphate synthase. Fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101536

Functions of plasmalogen lipids in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101536

Prenatal ultrasound diagnosis of rhizomelic chondrodysplasia punctata in a primigravida

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101536

Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101536

Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101536

Chondrodysplasia punctata: case report and literature review of patients with heart lesions

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101536

Natural history of rhizomelic chondrodysplasia punctata.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101536

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101536

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/10.1136%2FJMEDGENET-2013-101536

Regression equations for calculation of z scores of cardiac structures in a large cohort of healthy infants, children, and adolescents: an echocardiographic study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101536

Persistent ductus arteriosus: most probably a primary congenital malformation

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101536

Mitral valve diseases in Williams syndrome-case report and review of the literature.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101536

Alagille syndrome: pathogenesis, diagnosis and management

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101536

Plasmalogens: biosynthesis and functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101536

Connexin 43 signalling and cardioprotection

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101536

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101536

Postnatal development of phospholipids and their fatty acid profile in rat heart.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101536

Connexin 43 expression and distribution in compensated and decompensated cardiac hypertrophy in patients with aortic stenosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101536

Distinct cardiac malformations caused by absence of connexin 43 in the neural crest and in the non-crest neural tube

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101536

Cardiac malformation in neonatal mice lacking connexin43.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101536

Conduction slowing and sudden arrhythmic death in mice with cardiac-restricted inactivation of connexin43

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101536

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101536

Myocardial Salvage by Chimyl Alcohol: Possible Role of Peroxisomal Dysfunction in Reperfusion Injury.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101536

Changes in Plasmalogen Content of Human Heart and Skeletal Muscle with Age and Development

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101536

Engraftment of connexin 43-expressing cells prevents post-infarct arrhythmia

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101536

10.1136/JMEDGENET-2013-101536

21 January 2018

Identifiers

DOI

1 reference

2 June 2018

PubMed ID

23572185

1 reference

2 June 2018