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Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome?
scientific article published on 01 December 1984
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
6209040
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6209040%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 October 2019
title
Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome?
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
6209040
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6209040%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 October 2019
main subject
genetics
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1984.TB01107.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X
retrieved
29 August 2023
author name string
A. Poulos
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
6209040
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6209040
retrieved
29 August 2023
P. Sharp
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
6209040
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6209040
retrieved
29 August 2023
M. Whiting
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
6209040
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6209040
retrieved
29 August 2023
language of work or name
English
1 reference
stated in
National Center for Biotechnology Information
PubMed publication ID
6209040
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=6209040
retrieved
29 August 2023
publication date
1 December 1984
1 reference
stated in
Europe PubMed Central
PubMed publication ID
6209040
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6209040%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 October 2019
full work available at URL
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1399-0004.1984.tb01107.x
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1984.TB01107.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X
retrieved
29 August 2023
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1984.tb01107.x/fullpdf
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1984.TB01107.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X
retrieved
29 August 2023
published in
Clinical Genetics
1 reference
stated in
Europe PubMed Central
PubMed publication ID
6209040
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6209040%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 October 2019
volume
26
1 reference
stated in
Europe PubMed Central
PubMed publication ID
6209040
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6209040%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 October 2019
issue
6
1 reference
stated in
Europe PubMed Central
PubMed publication ID
6209040
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6209040%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 October 2019
page(s)
579-586
1 reference
stated in
Europe PubMed Central
PubMed publication ID
6209040
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6209040%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 October 2019
cites work
Ultramicro GC determination of amino acids using glass open tubular columns and a nitrogen-selective detector
series ordinal
1
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1984.TB01107.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X
retrieved
29 August 2023
Hyperpipecolic acidemia. Occurrence in an infant with clinical findings of the cerebrohepatorenal (Zellweger) syndrome
series ordinal
2
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1984.TB01107.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X
retrieved
29 August 2023
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
series ordinal
6
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1984.TB01107.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X
retrieved
29 August 2023
Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome
series ordinal
11
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1984.TB01107.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X
retrieved
29 August 2023
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
series ordinal
12
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1984.TB01107.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X
retrieved
29 August 2023
Defects of Bile Acid Synthesis in Zellweger's Syndrome
series ordinal
13
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1984.TB01107.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X
retrieved
29 August 2023
production of piperidine from pipecolic acid in the rat
series ordinal
14
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1984.TB01107.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X
retrieved
29 August 2023
Electrophoretic study of pipecolic acid, a biogenic imino acid, in the mammalian brain
series ordinal
15
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1984.TB01107.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X
retrieved
29 August 2023
Disturbances in bile acid metabolism of infants with the Zellweger (cerebro-hepato-renal) syndrome
series ordinal
17
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1984.TB01107.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X
retrieved
29 August 2023
Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids
series ordinal
18
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1984.TB01107.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X
retrieved
29 August 2023
Adrenoleukodystrophy: Elevated C26 fatty acid in cultured skin fibroblasts
series ordinal
19
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1984.TB01107.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X
retrieved
29 August 2023
Cerebrotendinous xanthomatosis: a defect in mitochondrial 26-hydroxylation required for normal biosynthesis of cholic acid
series ordinal
20
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1984.TB01107.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X
retrieved
29 August 2023
Diagnosis of Refsum's disease using [1-14C]phytanic acid as substrate
series ordinal
21
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1984.TB01107.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X
retrieved
29 August 2023
Patterns of Refsum's disease. Phytanic acid oxidase deficiency
series ordinal
22
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1984.TB01107.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X
retrieved
29 August 2023
Plasma and skin fibroblast C26 fatty acids in infantile Refsum's disease
series ordinal
23
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1984.TB01107.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X
retrieved
29 August 2023
Infantile phytanic acid storage disease, a possible variant of Refsum's disease: three cases, including ultrastructural studies of the liver
series ordinal
25
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1984.TB01107.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X
retrieved
29 August 2023
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
series ordinal
26
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1984.TB01107.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X
retrieved
29 August 2023
Gas-liquid chromatography of the N-heptafluorobutyryl isobutyl esters of fifty biologically interesting amino acids
series ordinal
27
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1984.TB01107.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X
retrieved
29 August 2023
Biochemical studies in the cerebro-hepato-renal syndrome of Zellweger: a disturbance in the metabolism of pipecolic acid.
series ordinal
31
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1984.TB01107.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X
retrieved
29 August 2023
Purification of the heat-stable factor required for alpha-hydroxylation and beta-oxidation of very long chain fatty acids in brain.
series ordinal
32
1 reference
stated in
Crossref
DOI
10.1111/J.1399-0004.1984.TB01107.X
reference URL
https://api.crossref.org/works/10.1111/J.1399-0004.1984.TB01107.X
retrieved
29 August 2023
Identifiers
DOI
10.1111/J.1399-0004.1984.TB01107.X
1 reference
stated in
Europe PubMed Central
PubMed publication ID
6209040
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6209040%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 October 2019
PubMed publication ID
6209040
1 reference
stated in
Europe PubMed Central
PubMed publication ID
6209040
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6209040%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 October 2019
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