(Q48390773)

English

Peroxisomal dysfunction in a boy with neurologic symptoms and amaurosis (Leber disease): clinical and biochemical findings similar to those observed in Zellweger syndrome.

scientific article published in January 1986

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scholarly article

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Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/3944694

Peroxisomal dysfunction in a boy with neurologic symptoms and amaurosis (Leber disease): clinical and biochemical findings similar to those observed in Zellweger syndrome. (English)

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/3944694

Ingemar Björkhem

4

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/3944694

author name string

Ek J

1

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/3944694

Kase BF

2

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/3944694

Reith A

3

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/3944694

Pedersen JI

5

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Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/3944694

language of work or name

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publication date

1 January 1986

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Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/3944694

The Journal of Pediatrics

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PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/3944694

108

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Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/3944694

1

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Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/3944694

19-24

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/3944694

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

1 reference

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

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Defects of Bile Acid Synthesis in Zellweger's Syndrome

1 reference

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

1 reference

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

1 reference

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7 January 2021

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

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Hepatic uptake of bile acids in man. Fasting and postprandial concentrations of individual bile acids in portal venous and systemic blood serum

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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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7 January 2021

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

1 reference

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7 January 2021

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

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Leber's congenital amaurosis. Is mental retardation a frequent associated defect?

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Ocular histopathologic and biochemical studies of the cerebrohepatorenal syndrome (Zellweger's syndrome) and its relationship to neonatal adrenoleukodystrophy

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7 January 2021

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

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Peroxisomal defects in neonatal-onset and X-linked adrenoleukodystrophies

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Refsum's disease, adrenoleucodystrophy, and the Zellweger syndrome

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Studies on microperoxisomes. VII. Pigment epithelial cells and other cell types in the retina of rodents

1 reference

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7 January 2021

Possibility of prenatal diagnosis of Zellweger syndrome

1 reference

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7 January 2021

Hereditary syndrome of congenital retinal blindness (Leber), polycystic kidneys and maldevelopment of the brain

1 reference

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7 January 2021

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Identifiers

10.1016/S0022-3476(86)80763-6

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/3944694

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/3944694

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