Literature DB >> 4101505

Inborn errors of metabolism in neurology (Wilson's disease, Refsum's disease and lipidoses).

J N Cumings.   

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Year:  1971        PMID: 4101505      PMCID: PMC1811522     

Source DB:  PubMed          Journal:  Proc R Soc Med        ISSN: 0035-9157


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  17 in total

1.  FAMILIAL NEUROVISCERAL LIPIDOSIS. AN ANALYSIS OF EIGHT CASES OF A SYNDROME PREVIOUSLY REPORTED AS "HURLER-VARIANT," "PSEUDO-HURLER," AND "TAY-SACHS DISEASE WITH VISCERAL INVOLVEMENT".

Authors:  B H LANDING; F N SILVERMAN; J M CRAIG; M D JACOBY; M E LAHEY; D L CHADWICK
Journal:  Am J Dis Child       Date:  1964-11

2.  FINE STRUCTURE OF THE LIPID BODIES IN JUVENILE AMAUROTIC IDIOCY.

Authors:  W ZEMAN; S DONAHUE
Journal:  Acta Neuropathol       Date:  1963-11-05       Impact factor: 17.088

3.  HEREDOPATHIA ATACTICA POLYNEURITIFORMIS (REFSUM'S DISEASE)--A DEFECT IN THE OMEGA-OXIDATION MECHANISM OF FATTY ACIDS.

Authors:  L ELDJARN
Journal:  Scand J Clin Lab Invest       Date:  1965       Impact factor: 1.713

4.  The existence of an alternative pathway for the degradation of branch-chained fatty acids, and its failure in heredopathia atactica polyneuritiformis (Refsum's disease).

Authors:  L Eldjarn; K Try; O Stokke
Journal:  Biochim Biophys Acta       Date:  1966-04-04

5.  Caesium chloride in the preparation of membrane fractions from human cerebral tissue.

Authors:  E J Thompson; H Goodwin; J N Cumings
Journal:  Nature       Date:  1967-07-08       Impact factor: 49.962

6.  How repressor molecules function.

Authors:  M S Bretscher
Journal:  Nature       Date:  1968-02-10       Impact factor: 49.962

7.  Sphingolipids and phospholipids in microsomes and myelin from normal and pathological brains.

Authors:  J N Cumings; E J Thompson; H Goodwin
Journal:  J Neurochem       Date:  1968-03       Impact factor: 5.372

8.  Refsum's disease: nature of the enzyme defect.

Authors:  D Steinberg; J H Herndon; B W Uhlendorf; C E Mize; J Avigan; G W Milne
Journal:  Science       Date:  1967-06-30       Impact factor: 47.728

9.  Abnormal gangliosides in Tay-Sachs disease, Niemann-Pick's disease, and gargoylism.

Authors:  D A Booth; H Goodwin; J N Cumings
Journal:  J Lipid Res       Date:  1966-05       Impact factor: 5.922

10.  Lipids in the brains of infants and children.

Authors:  J N CUMINGS; H GOODWIN; E M WOODWARD; G CURZON
Journal:  J Neurochem       Date:  1958       Impact factor: 5.372

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  6 in total

1.  Late onset GM2-gangliosidosis. Clinical, pathological, and biochemical studies on 8 patients.

Authors:  E M Brett; R B Ellis; L Haas; J U Ikonne; B D Lake; A D Patrick; R Stephens
Journal:  Arch Dis Child       Date:  1973-10       Impact factor: 3.791

2.  Deficiency of alpha-mannosidase in Angus cattle. An inherited lysosomal storage disease.

Authors:  J D Hocking; R D Jolly; R D Batt
Journal:  Biochem J       Date:  1972-06       Impact factor: 3.857

3.  A case of G M2 gangliosidosis of late onset.

Authors:  P Buxton; J N Cumings; R B Ellis; B D Lake; W G Mair; J R Roberts; E P Young
Journal:  J Neurol Neurosurg Psychiatry       Date:  1972-10       Impact factor: 10.154

4.  Anderson-Fabry disease: a histopathological study of three cases with observations on the mechanism of production of pain.

Authors:  P Kahn
Journal:  J Neurol Neurosurg Psychiatry       Date:  1973-12       Impact factor: 10.154

5.  Significance of plasma copper and caeruloplasmin concentrations in rheumatoid arthritis.

Authors:  D P Bajpayee
Journal:  Ann Rheum Dis       Date:  1975-04       Impact factor: 19.103

6.  Neuronal ceroid lipofuscinosis (Batten's disease).

Authors:  N S Gordon; H B Marsden; M J Noronha
Journal:  Arch Dis Child       Date:  1972-04       Impact factor: 3.791

  6 in total

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