Literature DB >> 26519892

Cerebellar hypometabolism with normal structural findings in Cerebrotendinous xanthomatosis. A case report.

Michele Ragno1, Fabio Di Marzio1, Chiara Fuccio2, Luigi Pianese3, Valeria Cozzolino3, Terenzio Carboni1, Antonio Cinti1, Giordano D'Andreamatteo1, Luigi Trojano4, Andrea Mignarri5, Gian Nicola Gallus5, Maria Teresa Dotti5.   

Abstract

Entities:  

Keywords:  18FDG PET; Autosomal recessive disorder; Cerebellum; Cerebrotendinous xanthomatosis; Spastic paraparesis

Mesh：

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Year:  2015        PMID： 26519892     DOI： 10.1016/j.clineuro.2015.10.020

Source DB:  PubMed          Journal:  Clin Neurol Neurosurg        ISSN： 0303-8467            Impact factor:   1.876


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  4 in total

1.  A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract.

Authors:  Mohamed S Abdel-Hamid; Mahmoud Y Issa; Ghada A Otaify; Maha S Zaki
Journal:  Metab Brain Dis       Date:  2017-02-22       Impact factor: 3.584

2.  Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis.

Authors:  Bianca M L Stelten; Olivier Bonnot; Hidde H Huidekoper; Francjan J van Spronsen; Peter M van Hasselt; Leo A J Kluijtmans; Ron A Wevers; Aad Verrips
Journal:  J Inherit Metab Dis       Date:  2017-09-11       Impact factor: 4.982

3.  Cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report.

Authors:  Syed Mohd Razi; Abhinav Kumar Gupta; Deepak Chand Gupta; Manish Gutch; Keshav Kumar Gupta; Syeda Iqra Usman
Journal:  J Med Case Rep       Date:  2016-04-19

4.  Cerebrotendinous Xanthomatosis: Molecular Pathogenesis, Clinical Spectrum, Diagnosis, and Disease-Modifying Treatments.

Authors:  Shingo Koyama; Yoshiki Sekijima; Masatsune Ogura; Mika Hori; Kota Matsuki; Takashi Miida; Mariko Harada-Shiba
Journal:  J Atheroscler Thromb       Date:  2021-05-08       Impact factor: 4.928
  4 in total

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