Literature DB >> 14045591

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

R RICHTERICH, W KAHLKE, E ROSSI.   

Abstract

Entities:  

Keywords:  ATAXIA; CHILD; DEAFNESS; FATTY ACIDS; HEMERALOPIA; ICHTHYOSIS; LIPID METABOLISM; LIPOIDOSIS; METABOLIC DISEASES; POLYNEURITIS; RETINITIS PIGMENTOSA

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Year:  1963        PMID： 14045591     DOI： 10.1007/bf01789071

Source DB:  PubMed          Journal:  Klin Wochenschr        ISSN： 0023-2173


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  4 in total

1.  Neuraminic (sialic) acid studies of biological fluids in amaurotic family idiocy and related disorders.

Authors:  A SAIFER; B W VOLK; S M ARONSON
Journal:  AMA J Dis Child       Date:  1959-05

2.  [Heredopathia atactica polyneuritiformis; reevaluation].

Authors:  S REFSUM
Journal:  World Neurol       Date:  1960-10

3.  Increased oxidation of p-phenylenediamine by serum of patients with Tay-Sachs disease.

Authors:  R M DOWBEN
Journal:  Q Bull Northwest Univ Med Sch       Date:  1959

4.  Cerebrospinal fluid enzymes in central nervous system lipidoses (with particular reference to amaurotic family idiocy).

Authors:  S M ARONSON; A SAIFER; G PERLE; B W VOLK
Journal:  Proc Soc Exp Biol Med       Date:  1958-02
  4 in total
  9 in total

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

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

2.  [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

3.  Phytanic acid in Refsum's syndrome.

Authors:  W S Alexander
Journal:  J Neurol Neurosurg Psychiatry       Date:  1966-10       Impact factor: 10.154

4.  Refsum's disease: a disorder of lipid metabolism.

Authors:  M Rake; M Saunders
Journal:  J Neurol Neurosurg Psychiatry       Date:  1966-10       Impact factor: 10.154

Review 5.  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

6.  [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

7.  [Lipid studies in organs of a child with Refsum's syndrome].

Authors:  G J Kremer
Journal:  Klin Wochenschr       Date:  1966-09-15

8.  [Ultrastructure of inborn errors of keratinization. V. Ichthyosis in Refsum's syndrome (heredopathia atactica polyneuritiformis) (author's transl)].

Authors:  I Anton-Lamprecht; W Kahlke
Journal:  Arch Dermatol Forsch       Date:  1974

9.  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
  9 in total

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