(Q44638794)

English

Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease: plasma changes and skin fibroblast phytanic acid oxidase

scientific article published in January 1985

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease: plasma changes and skin fibroblast phytanic acid oxidase (English)

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

Zellweger syndrome

1 reference

based on heuristic

inferred from title

author name string

A Poulos

1

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

P Sharp

2

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

A J Fellenberg

3

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

D M Danks

4

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

publication date

1 January 1985

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

70

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

172-177

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

Adrenoleukodystrophy: impaired oxidation of very long chain fatty acids in white blood cells, cultured skin fibroblasts, and amniocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/2408988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2408988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2408988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The metabolism of 3alpha, 7alpha, 12alpha-trihydorxy-5beta-cholestan-26-oic acid in two siblings with cholestasis due to intrahepatic bile duct anomalies. An apparent inborn error of cholic acid synthesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/2408988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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/2408988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hyperpipecolic acidemia: Clinical and biochemical observations in two male siblings

1 reference

https://pubmed.ncbi.nlm.nih.gov/2408988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2408988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cerebrotendinous xanthomatosis: a defect in mitochondrial 26-hydroxylation required for normal biosynthesis of cholic acid

1 reference

https://pubmed.ncbi.nlm.nih.gov/2408988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids

1 reference

https://pubmed.ncbi.nlm.nih.gov/2408988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2408988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2408988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adrenoleukodystrophy. A clinical and pathological study of 17 cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/2408988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2408988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnosis of Refsum's disease using [1-14C]phytanic acid as substrate

1 reference

https://pubmed.ncbi.nlm.nih.gov/2408988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Patterns of Refsum's disease. Phytanic acid oxidase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/2408988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adrenomyeloneuropathy--clinical and biochemical diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/2408988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2408988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assay for polyunsaturated fatty acids by argentation--thin-layer chromatography using commercial thin-layer plates

1 reference

https://pubmed.ncbi.nlm.nih.gov/2408988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adrenoleukodystrophy: Elevated C26 fatty acid in cultured skin fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/2408988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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/2408988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Excretion of Pipecolic Acid by Infants and by Patients with Hyperlysinemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/2408988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2408988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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/2408988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A simple method for the isolation and purification of total lipides from animal tissues

1 reference

https://pubmed.ncbi.nlm.nih.gov/2408988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2408988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The cerebrohepatorenal syndrome of Zellweger, morphologic and metabolic aspects

1 reference

https://pubmed.ncbi.nlm.nih.gov/2408988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defects of Bile Acid Synthesis in Zellweger's Syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/2408988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2408988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00273077

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

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