(Q39876080)

English

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

scientific article published on January 1965

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

15 September 2017

1 reference

Europe PubMed Central

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 (English)

1 reference

Europe PubMed Central

PubMed publication ID

15 September 2017

inborn error of lipid metabolism

0 references

author name string

R Richterich

1

1 reference

Europe PubMed Central

PubMed publication ID

15 September 2017

H Moser

2

1 reference

Europe PubMed Central

PubMed publication ID

15 September 2017

E Rossi

3

1 reference

Europe PubMed Central

PubMed publication ID

15 September 2017

publication date

1 January 1965

1 reference

Europe PubMed Central

PubMed publication ID

15 September 2017

1 reference

Europe PubMed Central

PubMed publication ID

15 September 2017

1

1 reference

Europe PubMed Central

PubMed publication ID

15 September 2017

4

1 reference

Europe PubMed Central

PubMed publication ID

15 September 2017

322-332

1 reference

Europe PubMed Central

PubMed publication ID

15 September 2017

Retinitis Pigmentosa, External Ophthalmoplegia, and Complete Heart Block

1 reference

https://api.crossref.org/works/10.1007%2FBF00273974

21 January 2018

[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%2FBF00273974

21 January 2018

Die Thalidomid-Embryopathie*

1 reference

https://api.crossref.org/works/10.1007%2FBF00273974

21 January 2018

[HEREDOPATHIA ATACTICA POLYNEURITIFORMIS. CLINICAL ASPECTS AND DIAGNOSIS OF THE REFSUM SYNDROME.]

1 reference

https://pubmed.ncbi.nlm.nih.gov/4161898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heredopathia Atactica Polyneuritiformis (Refsum's Syndrome).

1 reference

https://pubmed.ncbi.nlm.nih.gov/4161898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Refsum's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/4161898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Occurrence of retinal pigmentation, ophthalmoplegia, ataxia, deafness and heart block. Report of a case, with findings at autopsy

1 reference

https://pubmed.ncbi.nlm.nih.gov/4161898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heredopathia atactica polyneuritiformis

1 reference

https://pubmed.ncbi.nlm.nih.gov/4161898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

1 reference

https://pubmed.ncbi.nlm.nih.gov/4161898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Refsum's disease; three siblings, one autopsy

1 reference

https://pubmed.ncbi.nlm.nih.gov/4161898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Retinitis pigmentosa, acanthrocytosis, and heredodegenerative neuromuscular disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/4161898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diabetes mellitus in a child showing features of Refsum's syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/4161898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Refsum's disease.]

1 reference

https://pubmed.ncbi.nlm.nih.gov/4161898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/4161898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Refsum's syndrome affecting a brother and two sisters

1 reference

https://pubmed.ncbi.nlm.nih.gov/4161898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

OPHTHALMOPLEGIA, ATAXIA, AND AREFLEXIA. FISHER'S SYNDROME

1 reference

https://pubmed.ncbi.nlm.nih.gov/4161898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heredopathia atactica polyneuritiformis

1 reference

https://pubmed.ncbi.nlm.nih.gov/4161898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Malformation of the erythrocytes in a case of atypical retinitis pigmentosa

1 reference

https://pubmed.ncbi.nlm.nih.gov/4161898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Refsum's disease]

1 reference

https://pubmed.ncbi.nlm.nih.gov/4161898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[REFSUM'S SYNDROME (HEREDOPATHIA ATACTICA POLYNEURITIFORMIS): CONGENITAL DISORDER OF LIPID METABOLISM WITH STORAGE OF 3,7,11,15-TETRAMETHYL-HEXADECANOIC ACID]

1 reference

https://pubmed.ncbi.nlm.nih.gov/4161898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A case of heredopathia atactica polyneuritiformis (morbus Refsum)

1 reference

https://pubmed.ncbi.nlm.nih.gov/4161898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heredopathia atactica polyneuritiformis

1 reference

https://pubmed.ncbi.nlm.nih.gov/4161898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An Unusual Variant of Acute Idiopathic Polyneuritis (Syndrome of Ophthalmoplegia, Ataxia and Areflexia)

1 reference

https://pubmed.ncbi.nlm.nih.gov/4161898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

On familial ataxia, neural amyotrophy, and their association with progressive external ophthalmoplegia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/4161898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Experimental production of congenital maiformations in mammals by metabolic procedure

1 reference

https://pubmed.ncbi.nlm.nih.gov/4161898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ocular myopathy associated with retinitis pigmentosa

1 reference

https://pubmed.ncbi.nlm.nih.gov/4161898

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. I. REPORT OF A CASE.

1 reference

https://pubmed.ncbi.nlm.nih.gov/4161898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PRESUMPTIVE X-LINKED INTERMEDIATE TRANSMISSION OF RETINAL DEGENERATIONS. VARIATIONS AND COINCIDENTAL OCCURRENCE WITH ATAXIA IN A LARGE FAMILY

1 reference

https://pubmed.ncbi.nlm.nih.gov/4161898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[On the incidence of 3,7,11,15-tetramethyl-hexadecanoic acid in blood serum in the Refsum syndrome]

1 reference

https://pubmed.ncbi.nlm.nih.gov/4161898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heredopathia atactica polyneuritiformis in children

1 reference

https://pubmed.ncbi.nlm.nih.gov/4161898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Usher syndrome].

1 reference

https://pubmed.ncbi.nlm.nih.gov/4161898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Retinitis pigmentosa combined with congenital deafness; with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases: A clinical and genetico-statistical study

1 reference

https://pubmed.ncbi.nlm.nih.gov/4161898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

REFSUM'S DISEASE (HERECOPATHIA ATACTICA POLYNEURITIFORMIS): AN INBORN ERROR OF LIPID METABOLISM WITH STORAGE OF 3,7,11,15-TETRAMETHYL HEXADECANOIC ACID. II. ISOLATION AND IDENTIFICATION OF THE STORAGE PRODUCT

1 reference

https://pubmed.ncbi.nlm.nih.gov/4161898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neuropathological changes in hereditary neuropathies: manifestation of the syndrome heredopathia atactica polyneuritiformis in the presence of interstitial hypertrophic polyneuropathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/4161898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital absence of beta-lipoproteins.

1 reference

https://pubmed.ncbi.nlm.nih.gov/4161898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Refsum's syndrome; an unusual hereditary neuropathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/4161898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

On having no beta-lipoprotein. A syndrome comprising a-beta-lipoproteinaemia, acanthocytosis, and steatorrhoea

1 reference

https://pubmed.ncbi.nlm.nih.gov/4161898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Refsum's syndrome; heredopathia atactica polyneuritiformis; a report of three cases, including a study of the cardiac pathology.

1 reference

https://pubmed.ncbi.nlm.nih.gov/4161898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00273974

1 reference

Europe PubMed Central

PubMed publication ID

15 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

15 September 2017

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