Literature DB >> 13045168

Heredopathia atactica polyneuritiformis.

S REFSUM.   

Abstract

Entities:  

Keywords:  CENTRAL NERVOUS SYSTEM/diseases

Mesh：

Year:  1952        PMID： 13045168     DOI： 10.1097/00005053-195212000-00051

Source DB:  PubMed          Journal:  J Nerv Ment Dis        ISSN： 0022-3018            Impact factor:   2.254


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  5 in total

1.  [REFSUM'S SYNDROME.--LIPOID CHEMICAL RESEARCH IN 9 CASES].

Authors:  W KAHLKE
Journal:  Klin Wochenschr       Date:  1964-10-15

Review 2.  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

3.  The hereditary tapetoretinal degenerations.

Authors:  K Wybar
Journal:  Proc R Soc Med       Date:  1967-02

4.  A syndrome of severe mental retardation, spasticity, and tapetoretinal degeneration linked to chromosome 15q24.

Authors:  S J Mitchell; D P McHale; D A Campbell; N J Lench; R F Mueller; S E Bundey; A F Markham
Journal:  Am J Hum Genet       Date:  1998-05       Impact factor: 11.025

5.  Retinitis pigmentosa, metaphyseal chondrodysplasia, and brachydactyly: an affected brother and sister.

Authors:  C I Phillips; R Wynne-Davies; N L Stokoe; M Newton
Journal:  J Med Genet       Date:  1981-02       Impact factor: 6.318
  5 in total

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