(Q55053133)

16 June 2018

https://api.crossref.org/works/10.1002/AJMG.A.33560

title

A mutation in PEX19 causes a severe clinical phenotype in a patient with peroxisomal biogenesis disorder (English)

1 reference

16 June 2024

5

Ronald J A Wanders

1 reference

16 June 2018

Merel S. Ebberink

4

object named as

Merel S. Ebberink

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20683989

16 June 2024

6

Hans R. Waterham

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20683989

16 June 2024

author name string

Sarar Mohamed

1

1 reference

16 June 2018

Ebtisam El-Meleagy

2

1 reference

16 June 2018

Abdelhaleem Nasr

3

1 reference

16 June 2018

language of work or name

English

0 references

publication date

1 September 2010

1 reference

16 June 2018

full work available at URL

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.33560

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.33560

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.33560

16 June 2024

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.33560

American Journal of Medical Genetics

16 June 2024

published in

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16 June 2018

volume

152A

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16 June 2018

issue

9

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16 June 2018

page(s)

2318-2321

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16 June 2018

Molecular defects in genetic diseases of peroxisomes

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.33560

Biochemical markers predicting survival in peroxisome biogenesis disorders

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.33560

PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.33560

Measurement of very long-chain fatty acids, phytanic and pristanic acid in plasma and cultured fibroblasts by gas chromatography

21 January 2018

https://api.crossref.org/works/10.1002/AJMG.A.33560

1

1 reference

Peroxisome biogenesis disorders: the role of peroxisomes and metabolic dysfunction in developing brain

16 June 2024

https://api.crossref.org/works/10.1002/AJMG.A.33560

2

1 reference

Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly

16 June 2024

https://api.crossref.org/works/10.1002/AJMG.A.33560

6

1 reference

Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly

16 June 2024

https://api.crossref.org/works/10.1002/AJMG.A.33560

7

1 reference

Peroxisomal disorders: genotype, phenotype, major neuropathologic lesions, and pathogenesis.

16 June 2024

https://api.crossref.org/works/10.1002/AJMG.A.33560

8

1 reference

Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders

16 June 2024

https://api.crossref.org/works/10.1002/AJMG.A.33560

10

1 reference

PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis

16 June 2024

https://api.crossref.org/works/10.1002/AJMG.A.33560

11

1 reference

Animal cell mutants represent two complementation groups of peroxisome-defective Zellweger syndrome

16 June 2024

https://api.crossref.org/works/10.1002/AJMG.A.33560

12

1 reference

Gas chromatography/mass spectrometry analysis of very long chain fatty acids, docosahexaenoic acid, phytanic acid and plasmalogen for the screening of peroxisomal disorders

16 June 2024

https://api.crossref.org/works/10.1002/AJMG.A.33560

13

1 reference

Metabolic and molecular basis of peroxisomal disorders: a review

16 June 2024

https://api.crossref.org/works/10.1002/AJMG.A.33560

14

1 reference

16 June 2024

Identifiers

DOI

10.1002/AJMG.A.33560

1 reference

16 June 2018

1 reference

16 June 2018