Literature DB >> 4161899

Refsum's disease (heredopathia atactica polyneuritiformis). An inborn error of lipid metabolism with storage of 3,7,11,15 tetramethyl hexadecanoic acid formal genetics.

R Richterich, S Rosin, E Rossi.   

Abstract

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Year:  1965        PMID： 4161899     DOI： 10.1007/bf00273975

Source DB:  PubMed          Journal:  Humangenetik        ISSN： 0018-7348


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  4 in total

1.  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.

Authors:  W KAHLKE; R RICHTERICH
Journal:  Am J Med       Date:  1965-08       Impact factor: 4.965

2.  Heredopathia atactica polyneuritiformis.

Authors:  S REFSUM
Journal:  Acta Genet Stat Med       Date:  1957

Review 3.  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.

Authors:  R Richterich; H Moser; E Rossi
Journal:  Humangenetik       Date:  1965

4.  A genetical analysis of thirty families with Wilson's disease (hepatolenticular degeneration).

Authors:  A G BEARN
Journal:  Ann Hum Genet       Date:  1960-04       Impact factor: 1.670
  4 in total
  5 in total

1.  [Diagnosis and differential diagnosis of heredopathia atactica polyneuritiformis].

Authors:  S Refsum
Journal:  Dtsch Z Nervenheilkd       Date:  1969

2.  Refsum's syndrome: report of three cases.

Authors:  C D Quinlan; E A Martin
Journal:  J Neurol Neurosurg Psychiatry       Date:  1970-12       Impact factor: 10.154

3.  Studies on the metabolic error in Refsum's disease.

Authors:  D Steinberg; C E Mize; J Avigan; H M Fales; L Eldjarn; K Try; O Stokke; S Refsum
Journal:  J Clin Invest       Date:  1967-03       Impact factor: 14.808

4.  Patterns of Refsum's disease. Phytanic acid oxidase deficiency.

Authors:  A Poulos; A C Pollard; J D Mitchell; G Wise; G Mortimer
Journal:  Arch Dis Child       Date:  1984-03       Impact factor: 3.791

Review 5.  Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology.

Authors:  Kao-Jung Chang; Hsin-Yu Wu; Aliaksandr A Yarmishyn; Cheng-Yi Li; Yu-Jer Hsiao; Yi-Chun Chi; Tzu-Chen Lo; He-Jhen Dai; Yi-Chiang Yang; Ding-Hao Liu; De-Kuang Hwang; Shih-Jen Chen; Chih-Chien Hsu; Chung-Lan Kao
Journal:  Int J Mol Sci       Date:  2022-08-26       Impact factor: 6.208
  5 in total

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