(Q72687097)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7914249%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

title

Chondrodysplasia punctata with a mild clinical course (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7914249%20AND%20SRC:MED&resulttype=core&format=json

chondrodysplasia punctata

28 October 2019

main subject

1 reference

1

1 reference

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28 October 2019

author name string

J P Pfammatter

2

1 reference

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28 October 2019

A Spahr

3

1 reference

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28 October 2019

H Toplak

4

1 reference

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28 October 2019

R J Wanders

5

1 reference

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28 October 2019

R B Schutgens

6

1 reference

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28 October 2019

U N Wiesmann

7

1 reference

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28 October 2019

publication date

1 January 1994

1 reference

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Journal of Inherited Metabolic Disease

28 October 2019

published in

1 reference

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28 October 2019

volume

17

1 reference

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28 October 2019

issue

1

1 reference

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28 October 2019

page(s)

60-66

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https://scigraph.springernature.com/pub.10.1007/bf00735395

28 October 2019

exact match

0 references

cites work

Influence of plasmalogen deficiency on membrane fluidity of human skin fibroblasts: a fluorescence anisotropy study

1 reference

12 December 2020

Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports

1 reference

12 December 2020

A new type of chondrodysplasia punctata associated with peroxisomal dysfunction

1 reference

12 December 2020

A prenatal test for the cerebro-hepato-renal (Zellweger) syndrome by demonstration of the absence of catalase-containing particles (peroxisomes) in cultured amniotic fluid cells

1 reference

12 December 2020

Heterogeneity of Chondrodysplasia punctata

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

Single and multiple desipramine exposures of cultured cells. Changes in cellular anisotropy and in lipid composition of whole cells and of plasma membranes

1 reference

12 December 2020

Peroxisomal enzyme activities in the human hepatoblastoma cell line HepG2 as compared to human liver

1 reference

12 December 2020

Rhizomelic chondrodysplasia punctata: another peroxisomal disorder.

1 reference

12 December 2020

Congenital rubella syndrome associated with calcific epiphyseal stippling and peroxisomal dysfunction

1 reference

12 December 2020

Human dihydroxyacetonephosphate acyltransferase deficiency: a new peroxisomal disorder

1 reference

12 December 2020

Biochemical abnormalities in rhizomelic chondrodysplasia punctata

1 reference

12 December 2020

Peroxisomal enzyme deficiency in the Conradi-Hunerman form of chondrodysplasia punctata

1 reference

12 December 2020

The cerebro-hepato-renal (Zellweger) syndrome. Impaired de novo biosynthesis of plasmalogens in cultured skin fibroblasts

1 reference

12 December 2020

The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis.

1 reference

12 December 2020

Peroxisomal enzyme deficiency in X-linked dominant Conradi-Hünermann syndrome

1 reference

12 December 2020

Simple diagnosis of the Zellweger syndrome by gas-liquid chromatography of dimethylacetals

1 reference

12 December 2020

Acyl-CoA:dihydroxyacetone phosphate acyltransferase in human skin fibroblasts: study of its properties using a new assay method.

1 reference

12 December 2020

Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00735395

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7914249%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

1 reference