(Q72823003)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7967497%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

review article

1 reference

title

Peroxisomal disorders: a review (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7967497%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

author name string

B Fournier

1

1 reference

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29 October 2019

J A Smeitink

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7967497%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

L Dorland

3

1 reference

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29 October 2019

R Berger

4

1 reference

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29 October 2019

J M Saudubray

5

1 reference

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29 October 2019

B T Poll-The

6

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29 October 2019

publication date

1 January 1994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7967497%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

29 October 2019

published in

1 reference

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29 October 2019

volume

17

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29 October 2019

issue

4

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29 October 2019

page(s)

470-486

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7967497%20AND%20SRC:MED&resulttype=core&format=json

A new type of chondrodysplasia punctata associated with peroxisomal dysfunction

29 October 2019

cites work

1 reference

12 December 2020

Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis

1 reference

12 December 2020

Identification of L-pipecolate oxidase in human liver and its deficiency in the Zellweger syndrome

1 reference

12 December 2020

Biochemical abnormalities in rhizomelic chondrodysplasia punctata

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Congenital rubella syndrome associated with calcific epiphyseal stippling and peroxisomal dysfunction

1 reference

12 December 2020

Linkage of adrenoleukodystrophy to a polymorphic DNA probe

1 reference

12 December 2020

Biochemistry of peroxisomes

1 reference

12 December 2020

Zellweger-like syndrome with detectable hepatic peroxisomes: a variant form of peroxisomal disorder

1 reference

12 December 2020

Zellweger syndrome and a microdeletion of the proximal long arm of chromosome 7

1 reference

12 December 2020

An enzyme trafficking defect in two patients with primary hyperoxaluria type 1: peroxisomal alanine/glyoxylate aminotransferase rerouted to mitochondria

1 reference

12 December 2020

Transport of microinjected proteins into peroxisomes of mammalian cells: inability of Zellweger cell lines to import proteins with the SKL tripeptide peroxisomal targeting signal

1 reference

12 December 2020

Peroxisomal bifunctional protein from rat liver is a trifunctional enzyme possessing 2-enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase, and delta 3, delta 2-enoyl-CoA isomerase activities

1 reference

12 December 2020

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

1 reference

12 December 2020

Peroxisomal bifunctional enzyme deficiency

1 reference

12 December 2020

Adrenoleukodystrophy gene: unexpected homology to a protein involved in peroxisome biogenesis

1 reference

12 December 2020

Genetic and phenotypic heterogeneity in disorders of peroxisome biogenesis--a complementation study involving cell lines from 19 patients

1 reference

12 December 2020

Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: a peroxisomal entity amenable to plasmapheresis

1 reference

12 December 2020

Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency

1 reference

12 December 2020

Liver pathology and immunocytochemistry in congenital peroxisomal diseases: a review

1 reference

12 December 2020

A new peroxisomal disorder: di- and trihydroxycholestanaemia due to a presumed trihydroxycholestanoyl-CoA oxidase deficiency

1 reference

12 December 2020

Reversal of early neurologic and neuroradiologic manifestations of X-linked adrenoleukodystrophy by bone marrow transplantation

1 reference

12 December 2020

The CoA esters of 2-methyl-branched chain fatty acids and of the bile acid intermediates di- and trihydroxycoprostanic acids are oxidized by one single peroxisomal branched chain acyl-CoA oxidase in human liver and kidney

1 reference

12 December 2020

Targeting signals for protein import into peroxisomes

1 reference

12 December 2020

Atypical riboflavin-responsive glutaric aciduria, and deficient peroxisomal glutaryl-CoA oxidase activity: a new peroxisomal disorder

1 reference

12 December 2020

Genetic and biochemical heterogeneity in patients with the rhizomelic form of chondrodysplasia punctata ? a complementation study

1 reference

12 December 2020

Long term survival of a patient with the cerebro-hepato-renal (Zellweger) syndrome

1 reference

12 December 2020

Human dihydroxyacetonephosphate acyltransferase deficiency: a new peroxisomal disorder

1 reference

12 December 2020

A sibship with a mild variant of Zellweger syndrome

1 reference

12 December 2020

Metabolic aspects of peroxisomal beta-oxidation

1 reference

12 December 2020

Bifunctional enzyme deficiency: identification of a new type of peroxisomal disorder in a patient with an impairment in peroxisomal beta-oxidation of unknown aetiology by means of complementation analysis

1 reference

12 December 2020

A two-year trial of oleic and erucic acids ("Lorenzo's oil") as treatment for adrenomyeloneuropathy

1 reference

12 December 2020

The 70-kDa peroxisomal membrane protein is a member of the Mdr (P-glycoprotein)-related ATP-binding protein superfamily

1 reference

12 December 2020

Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome

1 reference

12 December 2020

Adrenoleukodystrophy: phenotypic variability and implications for therapy

1 reference

12 December 2020

Di- and trihydroxycholestanoic acidaemia with hepatic failure

1 reference

12 December 2020

Complementation analysis of patients with intact peroxisomes and impaired peroxisomal beta-oxidation

1 reference

12 December 2020

Hyperpipecolatemia: A new metabolic disorder associated with neuropathy and hepatomegaly: A case study

1 reference

12 December 2020

Treatment of infantile phytanic acid storage disease: clinical, biochemical and ultrastructural findings in two children treated for 2 years

1 reference

12 December 2020

Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders

1 reference

12 December 2020

Phytanic acid alpha-oxidation. Differential subcellular localization in rat and human tissues and its inhibition by nycodenz

1 reference

12 December 2020

A human gene responsible for Zellweger syndrome that affects peroxisome assembly

1 reference

12 December 2020

Peroxisomal membrane ghosts in Zellweger syndrome--aberrant organelle assembly

1 reference

12 December 2020

Implication of a peroxisomal enzyme in the catabolism of glutaryl-CoA.

1 reference

12 December 2020

Di- and trihydroxycholestanaemia in twin sisters

1 reference

12 December 2020

Hyperpipecolic acidemia associated with hepatomegaly, mental retardation, optic nerve dysplasia and progressive neurological disease

1 reference

12 December 2020

Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect

1 reference

12 December 2020

Hyperpipecolic acidemia: Clinical and biochemical observations in two male siblings

1 reference

12 December 2020

Treatment with docosahexaenoic acid favorably modifies the fatty acid composition of erythrocytes in peroxisomal patients

1 reference

12 December 2020

Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters

1 reference

12 December 2020

Pseudo-Zellweger syndrome: deficiencies in several peroxisomal oxidative activities

1 reference

12 December 2020

The role of peroxisomes in cholesterol metabolism

1 reference

12 December 2020

Peroxisomal disorders in neurology

1 reference

12 December 2020

Gene assignment of Zellweger syndrome to 7q11.23: report of the second case associated with a pericentric inversion of chromosome 7

1 reference

12 December 2020

Aberrant subcellular localization of peroxisomal 3-ketoacyl-CoA thiolase in the Zellweger syndrome and rhizomelic chondrodysplasia punctata.

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00711362

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7967497%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

1 reference