Clinical approach to inherited peroxisomal disorders (Q41366886)

30 September 2017

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title

Clinical approach to inherited peroxisomal disorders (English)

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30 September 2017

F Poggi-Travert

1

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30 September 2017

B Fournier

series ordinal

2

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30 September 2017

B T Poll-The

series ordinal

3

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30 September 2017

J M Saudubray

series ordinal

4

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30 September 2017

publication date

1 January 1995

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Journal of Inherited Metabolic Disease

30 September 2017

published in

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30 September 2017

volume

18 Suppl 1

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30 September 2017

page(s)

1-18

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A new peroxisomal disease with impaired phytanic and pipecolic acid oxidation

30 September 2017

cites work

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Crossref

https://api.crossref.org/works/10.1007%2FBF00711425

Hepatic peroxisomes are deficient in infantile refsum disease: a cytochemical study of 4 cases

21 January 2018

1 reference

12 December 2020

Cytoplasmic catalase and ghostlike peroxisomes in the liver from a child with atypical chondrodysplasia punctata

1 reference

12 December 2020

Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction.

1 reference

12 December 2020

Komrower Lecture. Adrenoleukodystrophy: natural history, treatment and outcome

1 reference

12 December 2020

Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis

1 reference

12 December 2020

Linkage of adrenoleukodystrophy to a polymorphic DNA probe

1 reference

12 December 2020

Hyperpipecolic acidemia: Clinical and biochemical observations in two male siblings

1 reference

12 December 2020

Human liver pathology in peroxisomal diseases: a review including novel data

1 reference

12 December 2020

Diagnosis of peroxisomal disorders by analysis of phytanic and pristanic acids in stored blood spots collected at neonatal screening

1 reference

12 December 2020

Light microscopic visualization of peroxisomes and plasmalogens in first trimester chorionic villi

1 reference

12 December 2020

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

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

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

Rhizomelic chondrodysplasia punctata: another peroxisomal disorder.

1 reference

12 December 2020

Peroxisome mosaicism in the livers of peroxisomal deficiency patients

1 reference

12 December 2020

Diagnosis of Zellweger syndrome by analysis of very long-chain fatty acids in stored blood spots collected at neonatal screening

1 reference

12 December 2020

Infantile phytanic acid storage disease, a possible variant of Refsum's disease: three cases, including ultrastructural studies of the liver

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Mevalonate kinase is predominantly localized in peroxisomes and is defective in patients with peroxisome deficiency disorders

1 reference

12 December 2020

Absence of hepatic peroxisomes in a case of infantile Refsum's disease

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

Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Peroxisomal disorders in neurology

1 reference

12 December 2020

Pseudo-Zellweger syndrome: deficiencies in several peroxisomal oxidative 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

Partial deficiency of dihydroxyacetone phosphate acyltransferase activity in both classical and infantile Refsum's diseases

1 reference

12 December 2020

Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy

1 reference

12 December 2020

First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe

1 reference

12 December 2020

DNA diagnosis of X-linked adrenoleukodystrophy

1 reference

12 December 2020

Peroxisomal disorders: Concentrations of metabolites in cerebrospinal fluid compared with plasma

1 reference

12 December 2020

Liver pathology and immunocytochemistry in congenital peroxisomal diseases: a review

1 reference

12 December 2020

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

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12 December 2020

Liver and chorion cytochemistry

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12 December 2020

A new type of peroxisomal disorder with variable expression in liver and fibroblasts

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12 December 2020

Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome

1 reference

12 December 2020

Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency

1 reference

12 December 2020

Adrenoleukodystrophy: phenotypic variability and implications for therapy

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00711425

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Dimensions Publication ID

30 September 2017

1002483436

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