Literature DB >> 5676919

Cerebrotendinous xanthomatosis. The storage of cholestanol within the nervous system.

J H Menkes, J R Schimschock, P D Swanson.   

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Year:  1968        PMID: 5676919     DOI: 10.1001/archneur.1968.00480010065004

Source DB:  PubMed          Journal:  Arch Neurol        ISSN: 0003-9942


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  32 in total

1.  Cerebrotendinous xanthomatosis. Case report.

Authors:  O Bacchi; S Stefanucci; P L Brustenghi; A Pagliacci; G M Bellanti
Journal:  Ital J Neurol Sci       Date:  1992-09

2.  Magnetic resonance imaging of the brain and spinal cord in cerebrotendinous xanthomatosis.

Authors:  K S Bencze; D R Vande Polder; L D Prockop
Journal:  J Neurol Neurosurg Psychiatry       Date:  1990-02       Impact factor: 10.154

3.  Cerebrotendinous xanthomatosis.

Authors:  A S Truswell; P J Pfister
Journal:  Br Med J       Date:  1972-02-05

4.  Cerebrotendinous xanthomatosis: a treatable hereditary neuro-metabolic disease.

Authors:  Ana Claudia Rodrigues de Cerqueira; Antônio Egídio Nardi; Jose Marcelo Ferreira Bezerra
Journal:  Clinics (Sao Paulo)       Date:  2010       Impact factor: 2.365

5.  A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis.

Authors:  Hauke Schneider; Alexandra Lingesleben; Hans-Peter Vogel; Rita Garuti; Sebastiano Calandra
Journal:  Orphanet J Rare Dis       Date:  2010-10-06       Impact factor: 4.123

6.  Biosynthesis of 5 -cholestan-3 -ol in cerebrotendinous xanthomatosis.

Authors:  G Salen; A Polito
Journal:  J Clin Invest       Date:  1972-01       Impact factor: 14.808

7.  Cerebrotendinous xanthomatosis: a defect in cellular sterol biosynthetic control.

Authors:  J L Barron; J U Maxwell; G S Rutherfoord
Journal:  J Inherit Metab Dis       Date:  1982       Impact factor: 4.982

8.  A case of cerebrotendinous xanthomatosis. II: The sterol content of a cataractous lens.

Authors:  P McKenna; S J Morgan; R C Bosanquet; M F Laker
Journal:  Br J Ophthalmol       Date:  1990-10       Impact factor: 4.638

9.  Demonstration of 26-hydroxylation of C27-steroids in human skin fibroblasts, and a deficiency of this activity in cerebrotendinous xanthomatosis.

Authors:  S Skrede; I Björkhem; E A Kvittingen; M S Buchmann; S O Lie; C East; S Grundy
Journal:  J Clin Invest       Date:  1986-09       Impact factor: 14.808

10.  Cerebrotendinous xanthomatosis; a genetic condition: Clinical profile of three patients from a rural Indian family and review of literature.

Authors:  Vikas Saxena; Pavan Pradhan
Journal:  J Clin Orthop Trauma       Date:  2016-03-04
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