(Q41620502)

reason for preferred rank

5 October 2017

Genetic and biochemical heterogeneity in patients with the rhizomelic form of chondrodysplasia punctata ? a complementation study (English)

1 reference

16 October 2022

Genetic and biochemical heterogeneity in patients with the rhizomelic form of chondrodysplasia punctata--a complementation study (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1618493

alkyl and aryl transferases

16 October 2022

main subject

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1618493

Genetic Complementation Test

16 October 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1618493

16 October 2022

1 reference

16 October 2022

author name string

J. C. Heikoop

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1618493

16 October 2022

R. J. Wanders

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1618493

16 October 2022

A. Strijland

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1618493

16 October 2022

R. Purvis

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1618493

16 October 2022

R. B. Schutgens

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1618493

16 October 2022

J. M. Tager

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1618493

16 October 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1618493

16 October 2022

publication date

1 June 1992

1 reference

full work available at URL

5 October 2017

http://link.springer.com/content/pdf/10.1007/BF00194319.pdf

file format

Portable Document Format

1 reference

http://link.springer.com/article/10.1007/BF00194319/fulltext.html

16 October 2022

1 reference

http://link.springer.com/content/pdf/10.1007/BF00194319

16 October 2022

1 reference

16 October 2022

1 reference

5 October 2017

89

1 reference

5 October 2017

4

1 reference

5 October 2017

439-444

1 reference

https://scigraph.springernature.com/pub.10.1007/bf00194319

5 October 2017

0 references

cites work

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1 reference

12 December 2020

Complete cDNA sequence of human foetal liver peroxisomal 3-oxoacyl-CoA thiolase

1 reference

12 December 2020

Heterogeneity of Chondrodysplasia punctata

1 reference

12 December 2020

Structural analysis of cDNA for rat peroxisomal 3-ketoacyl-CoA thiolase

1 reference

12 December 2020

Synthesis of 3-ketoacyl-CoA thiolase of rat liver peroxisomes on free polyribosomes as a larger precursor. Induction of thiolase mRNA activity by clofibrate

1 reference

12 December 2020

Identification of peroxisomal targeting signals located at the carboxy terminus of four peroxisomal proteins

1 reference

12 December 2020

Aberrant subcellular localization of peroxisomal 3-ketoacyl-CoA thiolase in the Zellweger syndrome and rhizomelic chondrodysplasia punctata.

1 reference

12 December 2020

Measurement of protein using bicinchoninic acid

1 reference

12 December 2020

Cell-free synthesis of the enzymes of peroxisomal beta-oxidation

1 reference

12 December 2020

Plasmalogen biosynthesis in peroxisomal disorders: fatty alcohol versus alkylglycerol precursors

1 reference

12 December 2020

Nucleotide sequence of human peroxisomal 3-oxoacyl-CoA thiolase

1 reference

12 December 2020

Rhizomelic chondrodysplasia punctata: another peroxisomal disorder.

1 reference

12 December 2020

Presence of peroxisomal membrane proteins in liver and fibroblasts from patients with the Zellweger syndrome and related disorders: evidence for the existence of peroxisomal ghosts

1 reference

12 December 2020

Rhizomelic chondrodysplasia punctata: clinical, pathologic, and biochemical findings in two patients

1 reference

12 December 2020

Biochemical abnormalities in rhizomelic chondrodysplasia punctata

1 reference

12 December 2020

Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis

1 reference

12 December 2020

Peroxisomal disorders in neurology

1 reference

12 December 2020

Kinetics of the assembly of peroxisomes after fusion of complementary cell lines from patients with the cerebro-hepato-renal (Zellweger) syndrome and related disorders

1 reference

12 December 2020

Genetic and phenotypic heterogeneity in disorders of peroxisome biogenesis--a complementation study involving cell lines from 19 patients

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

Peroxisomes of normal morphology but deficient in 3-oxoacyl-CoA thiolase in Rhizomelic Chondrodysplasia Punctata fibroblasts

1 reference

12 December 2020

Rhizomelic chondrodysplasia punctata. Deficiency of 3-oxoacyl-coenzyme A thiolase in peroxisomes and impaired processing of the enzyme

1 reference

12 December 2020

Rhizomelic chondrodysplasia punctata: Biochemical studies of peroxisomes isolated from cultured skin fibroblasts

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00194319

1 reference

Dimensions Publication ID

5 October 2017

0 references

1 reference