(Q73614038)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9266377%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

title

Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9266377%20AND%20SRC:MED&resulttype=core&format=json

rhizomelic chondrodysplasia punctata

5 November 2019

main subject

1 reference

G A Jansen

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9266377%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

S J Mihalik

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9266377%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

P A Watkins

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9266377%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

H W Moser

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9266377%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

C Jakobs

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9266377%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

H S Heijmans

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9266377%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

R J Wanders

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9266377%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

publication date

1 July 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9266377%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

5 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9266377%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

volume

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9266377%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

page(s)

444-446

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9266377%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9266377%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1023/a:1005379406639

5 November 2019

exact match

0 references

cites work

Pristanic acid and phytanic acid in plasma from patients with peroxisomal disorders: stable isotope dilution analysis with electron capture negative ion mass fragmentography

1 reference

12 December 2020

Phytanoyl-coenzyme A hydroxylase deficiency -- the enzyme defect in Refsum's disease

1 reference

12 December 2020

Phytanic acid alpha-oxidation in rat liver peroxisomes. Production of alpha-hydroxyphytanoyl-CoA and formate is enhanced by dioxygenase cofactors

1 reference

12 December 2020

Phytanoyl-CoA hydroxylase is present in human liver, located in peroxisomes, and deficient in Zellweger syndrome: direct, unequivocal evidence for the new, revised pathway of phytanic acid alpha-oxidation in humans

1 reference

12 December 2020

Differential protein import deficiencies in human peroxisome assembly disorders

1 reference

12 December 2020

Disorders of peroxisome biogenesis

1 reference

12 December 2020

Proteins involved in peroxisome biogenesis and functioning.

1 reference

12 December 2020

Phytanic acid must be activated to phytanoyl-CoA prior to its alpha-oxidation in rat liver peroxisomes

1 reference

12 December 2020

Peroxisomal disorders: a review

1 reference

12 December 2020

Clinical and biochemical heterogeneity in conditions with phytanic acid accumulation

1 reference

12 December 2020