(Q35665781)

9 August 2017

title

Inborn errors of metabolism in neurology (Wilson's disease, Refsum's disease and lipidoses). (English)

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9 August 2017

Cumings JN

1

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9 August 2017

language of work or name

English

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publication date

1 March 1971

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Journal of the Royal Society of Medicine

9 August 2017

published in

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9 August 2017

volume

64

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9 August 2017

issue

3

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9 August 2017

page(s)

313-322

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[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

9 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1811522

Sphingolipids and phospholipids in microsomes and myelin from normal and pathological brains

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1811522

Neuronal ceroid-lipofuscinosis (Batten's disease): relationship to amaurotic family idiocy?

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1811522

Electron histochemical demonstration of gangliosides in normal and Tay-Sachs brain tissue.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1811522

The existence of an alternative pathway for the degradation of branch-chained fatty acids, and its failure in heredopathia atactica polyneuritiformis (Refsum's disease).

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1811522

CHROMATOGRAPHlC SEPARATION OF HUMAN BRAIN GANGLIOSIDES*

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1811522

Lipids in the brains of infants and children.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1811522

Abnormal gangliosides in Tay-Sachs disease, Niemann-Pick's disease, and gargoylism.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1811522

How repressor molecules function

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1811522

Caesium chloride in the preparation of membrane fractions from human cerebral tissue.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1811522

FINE STRUCTURE OF THE LIPID BODIES IN JUVENILE AMAUROTIC IDIOCY

25 September 2018

1 reference

12 December 2020

Refsum's disease: nature of the enzyme defect

1 reference

12 December 2020

FAMILIAL NEUROVISCERAL LIPIDOSIS. AN ANALYSIS OF EIGHT CASES OF A SYNDROME PREVIOUSLY REPORTED AS "HURLER-VARIANT," "PSEUDO-HURLER," AND "TAY-SACHS DISEASE WITH VISCERAL INVOLVEMENT"

1 reference

12 December 2020

HEREDOPATHIA ATACTICA POLYNEURITIFORMIS (REFSUM'S DISEASE)--A DEFECT IN THE OMEGA-OXIDATION MECHANISM OF FATTY ACIDS

1 reference

12 December 2020

Antenatal detection of hereditary disorders

1 reference

12 December 2020

A CONTRIBUTION TO THE BIOCHEMISTRY OF TAY-SACHS DISEASE

1 reference

12 December 2020

A case of amaurotic family idiocy with lipid storage disease of bone

1 reference

12 December 2020

Identifiers

PMC publication ID

1811522

1 reference

9 August 2017

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