(Q28270885)

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Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism

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Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism (English)

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Ronald J A Wanders

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object named as

Ronald J A Wanders

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Hans R Waterham

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object named as

Hans R Waterham

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author name string

Jeannette Gootjes

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Frank Schmohl

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Petra A W Mooijer

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Conny Dekker

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Hanna Mandel

5

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Meral Topcu

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Martina Huemer

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M Von Schütz

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Thorsten Marquardt

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Jan A Smeitink

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language of work or name

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publication date

August 2004

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24

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2

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130-9

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PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20062

21 January 2018

Catalase-less peroxisomes. Implication in the milder forms of peroxisome biogenesis disorder

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20062

21 January 2018

Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder

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https://api.crossref.org/works/10.1002%2FHUMU.20062

21 January 2018

Peroxisome biogenesis disorders: genetics and cell biology

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https://api.crossref.org/works/10.1002%2FHUMU.20062

21 January 2018

Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20062

21 January 2018

Temperature-sensitive mutation in PEX1 moderates the phenotypes of peroxisome deficiency disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20062

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20062

21 January 2018

Temperature sensitive acyl-CoA oxidase import in group A peroxisome biogenesis disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20062

21 January 2018

Peroxisome senescence in human fibroblasts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20062

21 January 2018

Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20062

21 January 2018

Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20062

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20062

21 January 2018

Targeting of human catalase to peroxisomes is dependent upon a novel COOH-terminal peroxisomal targeting sequence

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20062

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20062

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20062

21 January 2018

Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20062

21 January 2018

Molecular mechanism of detectable catalase-containing particles, peroxisomes, in fibroblasts from a PEX2-defective patient

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20062

21 January 2018

Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20062

21 January 2018

Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20062

21 January 2018

Complementation studies in the cblA class of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20062

21 January 2018

Late onset white matter disease in peroxisome biogenesis disorder

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20062

7 January 2021

based on heuristic

inferred from DOI database lookup

Deficiency of enzymes catalyzing the biosynthesis of glycerol-ether lipids in Zellweger syndrome. A new category of metabolic disease involving the absence of peroxisomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20062

7 January 2021

based on heuristic

inferred from DOI database lookup

Restoration of biochemical function of the peroxisome in the temperature-sensitive mild forms of peroxisome biogenesis disorder in humans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20062

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20062

7 January 2021

based on heuristic

inferred from DOI database lookup

Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20062

7 January 2021

based on heuristic

inferred from DOI database lookup

Purification of peroxisomal acyl-CoA: dihydroxyacetonephosphate acyltransferase from human placenta

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20062

7 January 2021

based on heuristic

inferred from DOI database lookup

PEX12 encodes an integral membrane protein of peroxisomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20062

7 January 2021

based on heuristic

inferred from DOI database lookup

PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12p

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20062

7 January 2021

based on heuristic

inferred from DOI database lookup

A new variant of Zellweger syndrome with normal peroxisomal functions in cultured fibroblasts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20062

7 January 2021

based on heuristic

inferred from DOI database lookup

Analysis of very long-chain fatty acids using electrospray ionization mass spectrometry

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20062

7 January 2021

based on heuristic

inferred from DOI database lookup

Rapid stable isotope dilution analysis of very-long-chain fatty acids, pristanic acid and phytanic acid using gas chromatography-electron impact mass spectrometry

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20062

7 January 2021

based on heuristic

inferred from DOI database lookup

Analysis of plasmenylethanolamines using electrospray tandem mass spectrometry and its application in screening for peroxisomal disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20062

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20062

7 January 2021

based on heuristic

inferred from DOI database lookup

Immunoblot analysis of peroxisomal proteins in liver and fibroblasts from patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20062

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20062

7 January 2021

based on heuristic

inferred from DOI database lookup

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10.1002/HUMU.20062

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