(Q47613974)

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Infantile phytanic acid storage disease, a possible variant of Refsum's disease: three cases, including ultrastructural studies of the liver

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Europe PubMed Central

PubMed publication ID

4 February 2018

http://europepmc.org/abstract/MED/6188882

Infantile phytanic acid storage disease, a possible variant of Refsum's disease: three cases, including ultrastructural studies of the liver (English)

1 reference

Europe PubMed Central

PubMed publication ID

4 February 2018

http://europepmc.org/abstract/MED/6188882

Philippe Beaune

8

1 reference

Europe PubMed Central

PubMed publication ID

4 February 2018

http://europepmc.org/abstract/MED/6188882

author name string

J M Scotto

1

1 reference

Europe PubMed Central

PubMed publication ID

4 February 2018

http://europepmc.org/abstract/MED/6188882

M Hadchouel

2

1 reference

Europe PubMed Central

PubMed publication ID

4 February 2018

http://europepmc.org/abstract/MED/6188882

M Odievre

3

1 reference

Europe PubMed Central

PubMed publication ID

4 February 2018

http://europepmc.org/abstract/MED/6188882

M H Laudat

4

1 reference

Europe PubMed Central

PubMed publication ID

4 February 2018

http://europepmc.org/abstract/MED/6188882

J M Saudubray

5

1 reference

Europe PubMed Central

PubMed publication ID

4 February 2018

http://europepmc.org/abstract/MED/6188882

O Dulac

6

1 reference

Europe PubMed Central

PubMed publication ID

4 February 2018

http://europepmc.org/abstract/MED/6188882

I Beucler

7

1 reference

Europe PubMed Central

PubMed publication ID

4 February 2018

http://europepmc.org/abstract/MED/6188882

publication date

1 January 1982

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Europe PubMed Central

PubMed publication ID

4 February 2018

http://europepmc.org/abstract/MED/6188882

Journal of Inherited Metabolic Disease

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Europe PubMed Central

PubMed publication ID

4 February 2018

http://europepmc.org/abstract/MED/6188882

5

1 reference

Europe PubMed Central

PubMed publication ID

4 February 2018

http://europepmc.org/abstract/MED/6188882

2

1 reference

Europe PubMed Central

PubMed publication ID

4 February 2018

http://europepmc.org/abstract/MED/6188882

83-90

1 reference

Europe PubMed Central

PubMed publication ID

4 February 2018

http://europepmc.org/abstract/MED/6188882

[ON THE PRESENCE OF 3,7,11,15-TETRAMETHYLHEXADECANOIC ACID (PHYTANIC ACID) IN THE CHOLESTEROL ESTERS AND OTHER LIPOID FRACTIONS OF THE ORGANS IN A CASE OF A DISEASE OF UNKNOWN ORIGIN (POSSIBLY HEREDOPATHIA ATACTICA POLYNEURITIFORMIS, REFSUM'S SYNDR

1 reference

https://api.crossref.org/works/10.1007%2FBF01799998

21 January 2018

Adrenoleukodystrophy. Electron microscopic findings

1 reference

https://api.crossref.org/works/10.1007%2FBF01799998

21 January 2018

Studies of the proteins in human plasma very low density lipoproteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/6188882

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

REFSUM'S SYNDROME: REPORT OF A CASE INCLUDING ELECTRON MICROSCOPIC STUDIES OF THE LIVER

1 reference

https://pubmed.ncbi.nlm.nih.gov/6188882

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A case of Refsum's disease: clinical, pathological, ultrastructural and biochemical study

1 reference

https://pubmed.ncbi.nlm.nih.gov/6188882

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adreno-leukodystrophy (sex-linked Schilder's disease). A pathogenetic hypothesis based on ultrastructural lesions in adrenal cortex, peripheral nerve and testis

1 reference

https://pubmed.ncbi.nlm.nih.gov/6188882

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Studies on fatty liver with isolated hepatocytes. I. The action of colchicine, phalloidin, cytochalasin B, and cyclohexamide on protein and triglyceride synthesis and secretion

1 reference

https://pubmed.ncbi.nlm.nih.gov/6188882

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phytanic acid in tissue lipids in Refsum's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/6188882

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fatty acid composition of tissues in Refsum's disease (herodopathia atactica polyneuritiformis). Estimation of total phytanic acid accumulation

1 reference

https://pubmed.ncbi.nlm.nih.gov/6188882

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intracellular distributions of mechanochemical proteins in cultured fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/6188882

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cytoplasmic and nuclear glycogen synthesis in Novikoff ascites hepatoma cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/6188882

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of the colchicine binding of membrane fractions from rat and mouse liver

1 reference

https://pubmed.ncbi.nlm.nih.gov/6188882

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A role for the microtubular system in the release of very low density lipoproteins by perfused mouse livers

1 reference

https://pubmed.ncbi.nlm.nih.gov/6188882

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[On hepatocellular mitosis disorders and nuclear inclusions following repeated doses of colchicine. With a contribution to the problem of nuclear plasma inclusions]

1 reference

https://pubmed.ncbi.nlm.nih.gov/6188882

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Abnormalities in Cultured Muscle and Peripheral Nerve of a Patient with Adrenomyeloneuropathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/6188882

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Refsum's disease (heredopathia atactica polyneuritiformis). An inborn error of lipid metabolism with storage of 3,7,11,15 tetramethyl hexadecanoic acid. A review of the clinical findings

1 reference

https://pubmed.ncbi.nlm.nih.gov/6188882

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Increased concentration of phytanic acid in plasma and liver of an infant with cerebral damage of unknown etiology (author's transl)]

1 reference

https://pubmed.ncbi.nlm.nih.gov/6188882

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ultrastructural study of a peripheral nerve biopsy in Refsum's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/6188882

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Anatomical documents concerning a case of Refsum's disease]

1 reference

https://pubmed.ncbi.nlm.nih.gov/6188882

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Colchicine-induced inhibition of lipoprotein and protein secretion into the serum and lack of interference with secretion of biliary phospholipids and cholesterol by rat liver in vivo

1 reference

https://pubmed.ncbi.nlm.nih.gov/6188882

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

THE DISTRIBUTION AND CHEMICAL COMPOSITION OF ULTRACENTRIFUGALLY SEPARATED LIPOPROTEINS IN HUMAN SERUM

1 reference

https://pubmed.ncbi.nlm.nih.gov/6188882

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The use of formic acid in carrier gas. Rapid method for identification and determination of phytanic acid by gas chromatography-mass spectrometry-chemical ionization

1 reference

https://pubmed.ncbi.nlm.nih.gov/6188882

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Increased incidence of abnormal nasal cilia in patients with retinitis pigmentosa

1 reference

https://pubmed.ncbi.nlm.nih.gov/6188882

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF01799998

1 reference

Europe PubMed Central

PubMed publication ID

4 February 2018

http://europepmc.org/abstract/MED/6188882

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 February 2018

http://europepmc.org/abstract/MED/6188882

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