Literature DB >> 14158992

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

H HARDERS, H DIECKMANN.   

Abstract

Entities:  

Keywords:  ATAXIA; CEREBROSPINAL FLUID PROTEINS; GENETICS, HUMAN; HEMERALOPIA; POLYNEURITIS; REFSUM'S SYNDROME; RETINITIS PIGMENTOSA

Mesh：

Substances：

Year:  1964        PMID： 14158992     DOI： 10.1055/s-0028-1111013

Source DB:  PubMed          Journal:  Dtsch Med Wochenschr        ISSN： 0012-0472            Impact factor:   0.628


× No keyword cloud information.
  7 in total

1.  A-BETA-LIPOPROTEINAEMIA.

Authors:  C C FORSYTH; J K LLOYD; A S FOSBROOKE
Journal:  Arch Dis Child       Date:  1965-02       Impact factor: 3.791

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

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

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

Authors:  W KAHLKE
Journal:  Klin Wochenschr       Date:  1963-08-01

Review 4.  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

5.  [Studies on the phytol metabolism in lipoidosis heredopathia atactica polyneuritiformis (Refsum's syndrome). The transformation of 3H-phytol into the 3,7,11,15-tetramethylhexadecanoic acid (phytanic acid) of the plasma lipoid fractions].

Authors:  W Kahlke; H Wagener; H Dieckmann
Journal:  Klin Wochenschr       Date:  1965-12-15

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

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

7.  [Defects and excess in Laurence-Moon-Bardet-Biedl syndrome].

Authors:  G Jacobi
Journal:  Z Kinderheilkd       Date:  1965-10-11
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.