(Q52081480)

21 April 2018

title

A milder variant of Zellweger syndrome (English)

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21 April 2018

author

Koert Patrick Dingemans

4

object named as

K P Dingemans

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21 April 2018

author name string

P G Barth

1

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21 April 2018

R B Schutgens

2

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21 April 2018

J A Bakkeren

3

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21 April 2018

H S Heymans

5

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21 April 2018

A C Douwes

6

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21 April 2018

J M van der Klei-van Moorsel

7

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21 April 2018

publication date

1 November 1985

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21 April 2018

European Journal of Pediatrics

published in

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21 April 2018

volume

144

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21 April 2018

issue

4

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21 April 2018

page(s)

338-342

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21 April 2018

Cerebro-hepato-renal (Zellweger's) syndrome. Ocular involvement

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF00441774

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

21 January 2018

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12 December 2020

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

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12 December 2020

Serum very long chain fatty acid pattern in Zellweger syndrome

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12 December 2020

Tapetoretinal degeneration in the cerebro-hepato-renal (Zellweger's) syndrome

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Zellweger syndrome. Lenticular opacities indicating carrier status and lens abnormalities characteristic of homozygotes

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12 December 2020

Prenatal detection of Zellweger syndrome

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12 December 2020

Hyperpipecolic acidemia: Clinical and biochemical observations in two male siblings

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12 December 2020

Cerebro-hepato-renal syndrome of Zellweger. A report of eight cases with comments upon the incidence, the liver lesion, and a fault in pipecolic acid metabolism

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12 December 2020

Disturbed adrenocortical function in cerebro-hepato-renal syndrome of Zellweger

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12 December 2020

Cerebro-hepato-renal (Zellweger) syndrome and neonatal adrenoleukodystrophy: similarities in phenotype and accumulation of very long chain fatty acids.

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12 December 2020

Glycerolipid biosynthesis in peroxisomes via the acyl dihydroxyacetone phosphate pathway

1 reference

12 December 2020

Neonatal-onset adrenoleukodystrophy in a girl

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12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

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

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12 December 2020

Pathologic alterations in the brain and liver in hyperpipecolic acidemia.

1 reference

12 December 2020

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

1 reference

12 December 2020

Disturbances in bile acid metabolism of infants with the Zellweger (cerebro-hepato-renal) syndrome

1 reference

12 December 2020

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

1 reference

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

12 December 2020

Rat liver peroxisomes catalyze the beta oxidation of fatty acids

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

Fatty acid oxidation by human liver peroxisomes

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12 December 2020

New form of adrenoleukodystrophy

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12 December 2020

Ocular manifestations of Conradi and Zellweger syndromes

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12 December 2020

Ultrastructure of the Liver in the Cerebrohepatorenal Syndrome of Zellweger

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12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

Disturbed very long chain (C24-C26) fatty acid pattern in fibroblasts of patients with Zellweger's syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Peroxisomal oxidation of long chain fatty acids

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12 December 2020

Defects of Bile Acid Synthesis in Zellweger's Syndrome

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12 December 2020

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

1 reference

12 December 2020

Peroxisomal beta-oxidation of long fatty acids: effects of high fat diets

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12 December 2020

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

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12 December 2020

Identifiers

DOI

10.1007/BF00441774

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21 April 2018

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21 April 2018