Literature DB >> 85164

Heredopathia atactica polyneuritiformis (refsum's disease) treated by diet and plasma-exchange.

F B Gibberd, J D Billimoria, N G Page, S Retsas.   

Abstract

A patient with severe heredopathia atactica polyneuritiformis (Refsum's disease) has responded well to treatment by large-volume plasma-exchange. The dietary control of the disease has been shown to depend not only on a diet low in phytanic acid, but also on one high in calories, which prevents mobilisation of phytanic acid from fat stores.

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Year:  1979        PMID: 85164     DOI: 10.1016/s0140-6736(79)91005-5

Source DB:  PubMed          Journal:  Lancet        ISSN: 0140-6736            Impact factor:   79.321


  21 in total

1.  Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: a peroxisomal entity amenable to plasmapheresis.

Authors:  J A Smeitink; F A Beemer; M Espeel; R A Donckerwolcke; C Jakobs; R J Wanders; R B Schutgens; F Roels; M Duran; L Dorland
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  The effect of prednisolone in Refsum's disease.

Authors:  H Staunton; S Murphy; P Dervan
Journal:  Ir J Med Sci       Date:  1989-02       Impact factor: 1.568

3.  The significance of plasma phytanic acid levels in adults.

Authors:  T C Britton; F B Gibberd; M E Clemens; J D Billimoria; M C Sidey
Journal:  J Neurol Neurosurg Psychiatry       Date:  1989-07       Impact factor: 10.154

Review 4.  Metabolic syndromes with dermatologic manifestations.

Authors:  M Irons; H L Levy
Journal:  Clin Rev Allergy       Date:  1986-02

5.  The effect of phytol upon skeletal muscle damage in vitamin E-deficient animals.

Authors:  S Krywawych; M J Jackson; C Forte; P J Garrod; D K Walker; D P Brenton
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

Review 6.  An Overview of the Current State and the Future of Ataxia Treatments.

Authors:  Kimberly Tsu Kwei; Sheng-Han Kuo
Journal:  Neurol Clin       Date:  2020-02-27       Impact factor: 3.806

Review 7.  Potential for plasma exchange in children.

Authors:  E A Robinson
Journal:  Arch Dis Child       Date:  1982-04       Impact factor: 3.791

8.  Where now for therapeutic apheresis?

Authors:  T Hamblin
Journal:  Br Med J (Clin Res Ed)       Date:  1984-09-29

9.  Retinitis pigmentosa.

Authors: 
Journal:  Br Med J (Clin Res Ed)       Date:  1981-05-30

10.  Screening of patients with retinitis pigmentosa for heredopathia atactica polyneuritiformis (Refsum's disease).

Authors:  J M Goldman; M E Clemens; F B Gibberd; J D Billimoria
Journal:  Br Med J (Clin Res Ed)       Date:  1985-04-13
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