(Q67560168)

English

Zellweger-like phenotype in two siblings: a defect in peroxisomal beta-oxidation with elevated very long-chain fatty acids but normal bile acids

scientific article published on 01 January 1992

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1405475%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

Zellweger-like phenotype in two siblings: a defect in peroxisomal beta-oxidation with elevated very long-chain fatty acids but normal bile acids (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1405475%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

1 reference

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author name string

H. Mandel

1

1 reference

Europe PubMed Central

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23 September 2022

M. Berant

2

1 reference

Europe PubMed Central

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23 September 2022

A. Aizin

3

1 reference

Europe PubMed Central

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23 September 2022

R. Gershony

4

1 reference

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23 September 2022

S. Hemmli

5

1 reference

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23 September 2022

R. B. Schutgens

6

1 reference

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23 September 2022

R. J. Wanders

7

1 reference

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23 September 2022

language of work or name

1 reference

National Center for Biotechnology Information

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23 September 2022

publication date

1 January 1992

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15 September 2019

Journal of Inherited Metabolic Disease

1 reference

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15 September 2019

15

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15 September 2019

381-384

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15 September 2019

3

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15 September 2019

https://scigraph.springernature.com/pub.10.1007/bf02435982

0 references

A bifunctional protein with deficient enzymic activity: identification of a new peroxisomal disorder using novel methods to measure the peroxisomal beta-oxidation enzyme activities

1 reference

https://pubmed.ncbi.nlm.nih.gov/1405475

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Peroxisomal bifunctional enzyme deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/1405475

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neonatal seizures and retardation in a girl with biochemical features of X-linked adrenoleukodystrophy: a possible new peroxisomal disease entity

1 reference

https://pubmed.ncbi.nlm.nih.gov/1405475

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy)

1 reference

https://pubmed.ncbi.nlm.nih.gov/1405475

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The inborn errors of peroxisomal beta-oxidation: a review

1 reference

https://pubmed.ncbi.nlm.nih.gov/1405475

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bile acid analyses in "pseudo-Zellweger" syndrome; clues to the defect in peroxisomal beta-oxidation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1405475

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Peroxisomal disorders in neurology

1 reference

https://pubmed.ncbi.nlm.nih.gov/1405475

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Peroxisomal diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/1405475

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Separate peroxisomal oxidases for fatty acyl-CoAs and trihydroxycoprostanoyl-CoA in human liver

1 reference

https://pubmed.ncbi.nlm.nih.gov/1405475

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/1405475

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Peroxisomal beta-oxidation defect with detectable peroxisomes: a case with neonatal onset and progressive course

1 reference

https://pubmed.ncbi.nlm.nih.gov/1405475

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF02435982

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1405475%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

Dimensions Publication ID

0 references

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1405475%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

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