Peroxisomal beta-oxidation defect with detectable peroxisomes: a case with neonatal onset and progressive course (Q68551112)

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25 September 2019

title

Peroxisomal beta-oxidation defect with detectable peroxisomes: a case with neonatal onset and progressive course (English)

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25 September 2019

author name string

P G Barth

1

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25 September 2019

R J Wanders

2

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25 September 2019

R B Schutgens

3

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25 September 2019

E M Bleeker-Wagemakers

4

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25 September 2019

D van Heemstra

5

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25 September 2019

publication date

1 July 1990

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European Journal of Pediatrics

25 September 2019

published in

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volume

149

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25 September 2019

issue

10

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25 September 2019

page(s)

722-726

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https://scigraph.springernature.com/pub.10.1007/bf01959531

25 September 2019

exact match

0 references

cites work

Lignoceroyl-CoASH ligase: enzyme defect in fatty acid beta-oxidation system in X-linked childhood adrenoleukodystrophy

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12 December 2020

New phenotypic variant of adrenoleukodystrophy. Pathologic, ultrastructural, and biochemical study in two brothers

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

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Molecular analysis of peroxisomal beta-oxidation enzymes in infants with Zellweger syndrome and Zellweger-like syndrome: further heterogeneity of the peroxisomal disorder

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Neuropathological considerations in cerebro-hepato-renal syndrome (Zellweger's syndrome)

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Dietary effects on serum-phytanic-acid levels and on clinical manifestations in heredopathia atactica polyneuritiformis

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Peroxisomal bifunctional enzyme deficiency

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12 December 2020

Neonatal seizures and retardation in a girl with biochemical features of X-linked adrenoleukodystrophy: a possible new peroxisomal disease entity

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12 December 2020

Globoid cells, glial nodules, and peculiar fibrillary changes in the cerebro-hepato-renal syndrome of zellweger

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12 December 2020

Cerebro-hepato-renal syndrome. Report of a case with histochemical and ultrastructural observations

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12 December 2020

Neonatal-onset adrenoleukodystrophy in a girl

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

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12 December 2020

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

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Adrenoleukodystrophy. Preliminary report of a connatal case. Light- and electron microscopical, immunohistochemical and biochemical findings

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Adrenoleukodystrophy: Elevated C26 fatty acid in cultured skin fibroblasts

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Genetic diseases caused by peroxisomal dysfunction. New findings in clinical and biochemical studies

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NORMAL CONDUCTION VELOCITY OF ULNAR, MEDIAN AND PERONEAL NERVES IN INFANCY, CHILDHOOD AND ADOLESCENCE

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New form of adrenoleukodystrophy

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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

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Inherited peroxisomal disorders involving the nervous system

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12 December 2020

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

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12 December 2020

The inborn errors of peroxisomal beta-oxidation: a review

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12 December 2020

The Zellweger syndrome: subcellular pathology, neuropathology, and the demonstration of pneumocystis carinii pneumonitis in two siblings

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Peroxisomal disorders: clinical commentary and future prospects

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12 December 2020

A Golgi study of the brain malformation in Zellweger's cerebro-hepato-renal disease

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12 December 2020

Bile acid analyses in "pseudo-Zellweger" syndrome; clues to the defect in peroxisomal beta-oxidation

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12 December 2020

Peroxisomal fatty acid beta-oxidation in relation to the accumulation of very long chain fatty acids in cultured skin fibroblasts from patients with Zellweger syndrome and other peroxisomal disorders

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12 December 2020

Studies of malformation syndromes of man XIB: the cerebro-hepato-renal syndrome of zellweger: Comparative pathology

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12 December 2020

Peroxisomal disorders in neurology

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12 December 2020

Neonatal adrenoleukodystrophy

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12 December 2020

Glycogen accumulation in the central nervous system in the cerebro-hepato-renal syndrome. Report of a case with ultrastructural studies

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12 December 2020

Pseudo-Zellweger syndrome: deficiencies in several peroxisomal oxidative activities.

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

Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency

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12 December 2020

X-linked adrenoleukodystrophy: defective peroxisomal oxidation of very long chain fatty acids but not of very long chain fatty acyl-CoA esters

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12 December 2020

Peroxisomal lignoceroyl-CoA ligase deficiency in childhood adrenoleukodystrophy and adrenomyeloneuropathy

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12 December 2020

Identifiers

DOI

10.1007/BF01959531

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2209666%20AND%20SRC:MED&resulttype=core&format=json

25 September 2019

1 reference