Peroxisomal disorders: a newly recognised group of genetic diseases (Q39730039)

14 September 2017

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title

Peroxisomal disorders: a newly recognised group of genetic diseases (English)

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14 September 2017

R B Schutgens

1

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14 September 2017

H S Heymans

2

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14 September 2017

R J Wanders

3

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14 September 2017

H van den Bosch

4

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14 September 2017

J M Tager

5

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14 September 2017

publication date

1 February 1986

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European Journal of Pediatrics

14 September 2017

published in

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14 September 2017

volume

144

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14 September 2017

issue

5

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14 September 2017

page(s)

430-440

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Hyperpipecolic acidemia: Clinical and biochemical observations in two male siblings

14 September 2017

cites work

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Synthesis of 3-ketoacyl-CoA thiolase of rat liver peroxisomes on free polyribosomes as a larger precursor. Induction of thiolase mRNA activity by clofibrate

21 January 2018

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Adrenomyeloneuropathy: A probable variant of adrenoleukodystrophy I. Clinical and endocrinologic aspects

21 January 2018

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Adrenoleukodystrophy. A clinical and pathological study of 17 cases

21 January 2018

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The cerebro-hepato-renal (Zellweger) syndrome. Impaired de novo biosynthesis of plasmalogens in cultured skin fibroblasts

21 January 2018

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

21 January 2018

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Oxidation of spermidine and spermine in rat liver: purification and properties of polyamine oxidase

21 January 2018

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https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Neonatal adrenoleukodystrophy: clinical, pathologic, and biochemical delineation of a syndrome affecting both males and females

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https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Serum very long chain fatty acid pattern in Zellweger syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Refsum's disease, adrenoleucodystrophy, and the Zellweger syndrome

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https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Deficiency of plasmalogens in the cerebro-hepato-renal (Zellweger) syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Subcellular localization of acyl coenzyme A: dihydroxyacetone phosphate acyltransferase in rat liver peroxisomes (microbodies)

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Peroxisomal defects in neonatal-onset and X-linked adrenoleukodystrophies

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

A prenatal test for the cerebro-hepato-renal (Zellweger) syndrome by demonstration of the absence of catalase-containing particles (peroxisomes) in cultured amniotic fluid cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Heterogeneity of Chondrodysplasia punctata

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https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Lignoceric acid is oxidized in the peroxisome: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Hyperpipecolic acidemia in neonatal adrenoleukodystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Three Hypolipidemic Drugs Increase Hepatic Palmitoyl-Coenzyme A Oxidation in the Rat

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Prenatal detection of Zellweger syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Does microsomal glycerophosphate acyltransferase also catalyze the acylation of dihydroxyacetone phosphate?

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Identification of 3 alpha,7 alpha,12 alpha-trihydroxy-5 beta-cholestan-26-oic acid, an intermediate in cholic acid synthesis, in the plasma of patients with infantile Refsum's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Alkyl dihydroxyacetone phosphate synthase in human fibroblasts and its deficiency in Zellweger syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Chondrodysplasia punctata congenita: a genetic heterogenous disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

The prenatal diagnosis of the cerebro-hepato-renal syndrome of Zellweger

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Ultrastructural and cytochemical demonstration of peroxisomes in cultured fibroblasts from patients with peroxisomal deficiency disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Intracellular localization of catalase and of some oxidases in rat liver

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Mitochondrial myopathies. Clinical, morphological and biochemical aspects

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Biosynthesis of carnitine octanoyltransferase and carnitine palmitoyltransferase

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Deficiency of acyl-CoA:dihydroxyacetone phosphate acyltransferase in thrombocytes of Zellweger patients: a simple postnatal diagnostic test

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Morphology and diagnosis of Zellweger syndrome. A contribution to combined cytochemical-finestructural identification of peroxisomes in autopsy material and frozen liver tissue with case report

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Chondrodysplasia punctata--rhizomelic form. Pathologic and radiologic studies of three infants

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Glycerolipid biosynthesis in peroxisomes via the acyl dihydroxyacetone phosphate pathway

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Deficiency of acyl-CoA: dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

The cerebro-hepato-renal (Zellweger) syndrome: lamellar lipid profiles in adrenocortical, hepatic mesenchymal, astrocyte cells and increased levels of very long chain fatty acids and phytanic acid in the plasma

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Cell-free synthesis of the enzymes of peroxisomal beta-oxidation

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Prenatal diagnosis of Zellweger cerebrohepatorenal syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Adrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis, and therapy

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Synthesis of a major integral membrane polypeptide of rat liver peroxisomes on free polysomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Degradation of cholesterol to propionic acid by rat liver peroxisomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Biosynthesis and intracellular transport of enzymes of peroxisomal beta-oxidation

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Striated adrenocortical cells in cerebro-hepato-renal (Zellweger) syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Increased Synthesis of Hexacosanoic Acid (C26 :0) by Cultured Skin Fibroblasts from Patients with Adrenoleukodystrophy (ALD) and Adrenomyeloneuropathy (AMN)1

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Metabolic pathways in peroxisomes and glyoxysomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Pathologic alterations in the brain and liver in hyperpipecolic acidemia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Rhizomelic chondrodysplasia punctata: another peroxisomal disorder.

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Patterns of Refsum's disease. Phytanic acid oxidase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

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://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

The cerebro-hepato-renal (Zellweger) syndrome: prenatal detection based on impaired biosynthesis of plasmalogens

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Acyl-Coa oxidase and hydratase-dehydrogenase, two enzymes of the peroxisomal beta-oxidation system, are synthesized on free polysomes of clofibrate-treated rat liver

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

A metabolic disorder similar to Zellweger syndrome with hepatic acatalasia and absence of peroxisomes, altered content and redox state of cytochromes, and infantile cirrhosis with hemosiderosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Adrenoleukodystrophy: diagnosis and carrier detection by determination of long-chain fatty acids in cultured fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome?

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Biogenesis of peroxisomes: intracellular site of synthesis of catalase and uricase

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Peroxisomes (microbodies and related particles)

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Refsum's disease: management by diet and plasmapheresis

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Peroxisomes (microbodies) in cell pathology.

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Adrenoleukodystrophy: Elevated C26 fatty acid in cultured skin fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Hepatic peroxisome (microbody) proliferation in rats fed plasticizers and related compounds

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Formation of cholic acid from 3 alpha, 7 alpha, 12 alpha-trihydroxy-5 beta-cholestanoic acid by rat liver peroxisomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

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

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Light and electron microscopic liver changes in the cerebro-hepato-renal syndrome of Zellweger (Peroxisome deficiency) (author's transl)

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

New form of adrenoleukodystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Microbodies and the problem of mitochondrial regeneration in liver cells.

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Ocular manifestations of Conradi and Zellweger syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

C27 Bile Acids in Infants with Coprostanic Acidemia and Occurrence of a 3alpha,7alpha,12alpha-Trihydroxy-5beta-C29 Dicarboxylic Bile Acid as a Major Component in Their Serum

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Ultrastructure of the Liver in the Cerebrohepatorenal Syndrome of Zellweger

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Activity of peroxisomal enzymes and intracellular distribution of catalase in Zellweger syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Defective peroxisomal cleavage of the C27-steroid side chain in the cerebro-hepato-renal syndrome of Zellweger

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Mitochondrial and peroxisomal fatty acid oxidation in liver homogenates and isolated hepatocytes from control and clofibrate-treated rats

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

The design of a diet restricted in saturated very long-chain fatty acids: therapeutic application in adrenoleukodystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Identification of female carriers of adrenoleukodystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

NATURE OF THE HEPATOMEGALIC EFFECT PRODUCED BY ETHYL-CHLOROPHENOXY-ISOBUTYRATE IN THE RAT

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Antenatal diagnosis of infantile Refsum's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Peroxisomal beta-oxidation enzyme proteins in the Zellweger syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Fatty acid products of peroxisomal β-oxidation

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

A FAMILIAL SYNDROME OF MULTIPLE CONGENITAL DEFECTS

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https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Cerebro-hepato-renal syndrome of Zellweger: clinical symptoms and relevant laboratory findings in 16 patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

The peroxisomes of human hepatocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Biosynthesis and maturation of peroxisomal beta-oxidation enzymes in fibroblasts in relation to the Zellweger syndrome and infantile Refsum disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Studies on the alpha oxidation of phytanic acid by rat liver mitochondria

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Prenatal diagnosis of the cerebro-hepato-renal (Zellweger) syndrome by detection of an impaired plasmalogen biosynthesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

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

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Intrahepatic pigment and crystal forms in patients with cerebrotendinous xanthomatosis (CTX)

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Biochemical studies in the cerebro-hepato-renal syndrome of Zellweger: a disturbance in the metabolism of pipecolic acid.

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Fatty acid abnormality in adrenoleukodystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

The prenatal diagnosis of adrenoleukodystrophy. Demonstration of increased hexacosanoic acid levels in cultured amniocytes and fetal adrenal gland

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

The cerebrohepatorenal syndrome of Zellweger, morphologic and metabolic aspects

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

The peroxisome: a new cytoplasmic organelle.

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Trihydroxycoprostanic acid in the duodenal fluid of two children with intrahepatic bile duct anomalies

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Plasma and skin fibroblast C26 fatty acids in infantile Refsum's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Microbodies: constituent organelles of animal cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

A fatty acyl-CoA oxidizing system in rat liver peroxisomes; enhancement by clofibrate, a hypolipidemic drug

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Synthesis of catalase in two cell-free protein-synthesizing systems and in rat liver

1 reference

https://pubmed.ncbi.nlm.nih.gov/3514227

12 December 2020

Identifiers

DOI

10.1007/BF00441734

1 reference

14 September 2017

1 reference