(Q24613849)

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A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents

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A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents (English)

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peroxisomal biogenesis disorder

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Ronald J A Wanders

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object named as

Ronald J A Wanders

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author name string

Annick Raas-Rothschild

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Petra A W Mooijer

3

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Jeannette Gootjes

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Hans R Waterham

5

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Alisa Gutman

6

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Yasuyuki Suzuki

7

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Nobuyuki Shimozawa

8

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Naomi Kondo

9

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Gideon Eshel

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Marc Espeel

11

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Frank Roels

12

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Stanley H Korman

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language of work or name

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publication date

April 2002

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American Journal of Human Genetics

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70

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4

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1062-8

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Immunocytochemical localization of peroxisomal proteins in human liver and kidney

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379104

7 April 2017

Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379104

7 April 2017

The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379104

7 April 2017

Usher syndrome: from genetics to pathogenesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379104

27 September 2017

Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379104

27 September 2017

The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379104

27 September 2017

The peroxisome biogenesis factors pex4p, pex22p, pex1p, and pex6p act in the terminal steps of peroxisomal matrix protein import

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379104

27 September 2017

Peroxisome biogenesis disorders: genetics and cell biology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379104

27 September 2017

Genotype-phenotype correlations in disorders of peroxisome biogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379104

27 September 2017

Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379104

27 September 2017

Peroxisomal disorders: clinical, biochemical, and molecular aspects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379104

27 September 2017

Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379104

27 September 2017

Ophthalmic manifestations of infantile phytanic acid storage disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379104

30 May 2018

Plasmalogen biosynthesis in peroxisomal disorders: fatty alcohol versus alkylglycerol precursors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379104

30 May 2018

Prenatal diagnosis of Zellweger syndrome by direct visualization of peroxisomes in chorionic villus fibroblasts by immunofluorescence microscopy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379104

30 May 2018

Complementation study of peroxisome-deficient disorders by immunofluorescence staining and characterization of fused cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379104

30 May 2018

Characteristic urine organic acid profile in peroxisomal biogenesis disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379104

28 November 2018

Infantile refsum disease in four Amish sibs.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379104

28 November 2018

Diagnosis and follow-up of a case of peroxisomal disorder with peroxisomal mosaicism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379104

28 November 2018

Temperature-sensitive phenotypes of peroxisome-assembly processes represent the milder forms of human peroxisome-biogenesis disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379104

28 November 2018

Immunolocalization of a 43 kDa peroxisomal membrane protein in the liver of patients with generalized peroxisomal disorders.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379104

28 November 2018

Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379104

28 November 2018

Peroxisome mosaicism in the livers of peroxisomal deficiency patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379104

28 November 2018

Temperature-sensitive mutation of PEX6 in peroxisome biogenesis disorders in complementation group C (CG-C): comparative study of PEX6 and PEX1

1 reference

https://pubmed.ncbi.nlm.nih.gov/11873320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Studies on phytanic acid alpha-oxidation in rat liver and cultured human skin fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/11873320

12 December 2020

based on heuristic

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Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups

1 reference

https://pubmed.ncbi.nlm.nih.gov/11873320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/11873320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunoblot analysis of peroxisomal proteins in liver and fibroblasts from patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/11873320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Measurement of peroxisomal fatty acid beta-oxidation in cultured human skin fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/11873320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Long Survival in a Case of Peroxisomal Biogenesis Disorder with Peroxisome Mosaicism in the Liver

1 reference

https://pubmed.ncbi.nlm.nih.gov/11873320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical approach to inherited peroxisomal disorders: a series of 27 patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/11873320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Liver and chorion cytochemistry

1 reference

https://api.crossref.org/works/10.1086%2F339766

7 January 2021

based on heuristic

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Identifiers

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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