Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome? (Q72750133)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6209040%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

title

Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome? (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6209040%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X

29 August 2023

author name string

A. Poulos

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6209040

29 August 2023

P. Sharp

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6209040

29 August 2023

M. Whiting

3

1 reference

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29 August 2023

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=6209040

29 August 2023

publication date

1 December 1984

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6209040%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

28 October 2019

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1399-0004.1984.tb01107.x

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1984.tb01107.x/fullpdf

29 August 2023

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X

29 August 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6209040%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

volume

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6209040%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6209040%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

page(s)

579-586

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6209040%20AND%20SRC:MED&resulttype=core&format=json

Ultramicro GC determination of amino acids using glass open tubular columns and a nitrogen-selective detector

28 October 2019

cites work

1

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X

Hyperpipecolic acidemia. Occurrence in an infant with clinical findings of the cerebrohepatorenal (Zellweger) syndrome

29 August 2023

2

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X

Cerebro-hepato-renal syndrome of Zellweger. A report of eight cases with comments upon the incidence, the liver lesion, and a fault in pipecolic acid metabolism

29 August 2023

6

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X

Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome

29 August 2023

11

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X

The metabolism of 3alpha, 7alpha, 12alpha-trihydorxy-5beta-cholestan-26-oic acid in two siblings with cholestasis due to intrahepatic bile duct anomalies. An apparent inborn error of cholic acid synthesis

29 August 2023

12

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X

Defects of Bile Acid Synthesis in Zellweger's Syndrome

29 August 2023

13

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X

production of piperidine from pipecolic acid in the rat

29 August 2023

14

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X

Electrophoretic study of pipecolic acid, a biogenic imino acid, in the mammalian brain

29 August 2023

15

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X

Disturbances in bile acid metabolism of infants with the Zellweger (cerebro-hepato-renal) syndrome

29 August 2023

17

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X

Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids

29 August 2023

18

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X

Adrenoleukodystrophy: Elevated C26 fatty acid in cultured skin fibroblasts

29 August 2023

19

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X

Cerebrotendinous xanthomatosis: a defect in mitochondrial 26-hydroxylation required for normal biosynthesis of cholic acid

29 August 2023

20

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X

Diagnosis of Refsum's disease using [1-14C]phytanic acid as substrate

29 August 2023

21

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X

Patterns of Refsum's disease. Phytanic acid oxidase deficiency

29 August 2023

22

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X

Plasma and skin fibroblast C26 fatty acids in infantile Refsum's disease

29 August 2023

23

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X

Infantile phytanic acid storage disease, a possible variant of Refsum's disease: three cases, including ultrastructural studies of the liver

29 August 2023

25

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X

Further characterization of the heat-stable factor in the alpha-hydroxylation and oxidation of lignoceric acid in brain: effect of acidic amino acids and hexose-phosphates on brain fatty acid metabolism

29 August 2023

26

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X

Gas-liquid chromatography of the N-heptafluorobutyryl isobutyl esters of fifty biologically interesting amino acids

29 August 2023

27

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X

Biochemical studies in the cerebro-hepato-renal syndrome of Zellweger: a disturbance in the metabolism of pipecolic acid.

29 August 2023

31

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X

Purification of the heat-stable factor required for alpha-hydroxylation and beta-oxidation of very long chain fatty acids in brain

29 August 2023

32

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X

29 August 2023

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6209040%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

1 reference