Literature DB >> 7611045

Neuroradiologic findings in fucosidosis, a rare lysosomal storage disease.

J M Provenzale1, D P Barboriak, K Sims.   

Abstract

Fucosidosis is a rare lysosomal storage disorder with the clinical features of mental retardation, cardiomegaly, dysostosis multiplex, progressive neurologic deterioration, and early death. The neuroradiologic findings in two patients are reported, and include abnormalities within the globus pallidus (both patients) and periventricular white matter (one patient).

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Year:  1995        PMID: 7611045      PMCID: PMC8332243     

Source DB:  PubMed          Journal:  AJNR Am J Neuroradiol        ISSN: 0195-6108            Impact factor:   3.825


  15 in total

Review 1.  Acquired hepatocerebral degeneration.

Authors:  Joseph Ferrara; Joseph Jankovic
Journal:  J Neurol       Date:  2009-02-17       Impact factor: 4.849

2.  MR brain imaging of fucosidosis type I.

Authors:  P Galluzzi; A Rufa; P Balestri; A Cerase; A Federico
Journal:  AJNR Am J Neuroradiol       Date:  2001-04       Impact factor: 3.825

3.  Skeletal and Brain Abnormalities in Fucosidosis, a Rare Lysosomal Storage Disorder.

Authors:  Camille Malatt; Jeffrey L Koning; John Naheedy
Journal:  J Radiol Case Rep       Date:  2015-05-31

4.  Characteristic MR spectroscopy in fucosidosis: in vitro investigation.

Authors:  Alex C Mamourian; Jeremy R Hopkin; Sanjeev Chawla; Harish Poptani
Journal:  Pediatr Radiol       Date:  2010-03-25

5.  Magnetic resonance imaging pattern recognition in hypomyelinating disorders.

Authors:  Marjan E Steenweg; Adeline Vanderver; Susan Blaser; Alberto Bizzi; Tom J de Koning; Grazia M S Mancini; Wessel N van Wieringen; Frederik Barkhof; Nicole I Wolf; Marjo S van der Knaap
Journal:  Brain       Date:  2010-10       Impact factor: 13.501

6.  Evolution of the neuroimaging changes in fucosidosis type II.

Authors:  D Terespolsky; J T Clarke; S I Blaser
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

7.  Increased cerebellar volume in the early stage of fucosidosis: a case control study.

Authors:  Thomas Kau; Christoph Karlo; Tayfun Güngör; Viola Prietsch; Christian J Kellenberger; Ianina Scheer; Eugen Boltshauser
Journal:  Neuroradiology       Date:  2011-03-08       Impact factor: 2.804

Review 8.  Bilateral symmetrical basal ganglia and thalamic lesions in children: an update (2015).

Authors:  Giulio Zuccoli; Michael Paul Yannes; Raffaele Nardone; Ariel Bailey; Amy Goldstein
Journal:  Neuroradiology       Date:  2015-07-31       Impact factor: 2.804

9.  Fucosidosis: MRI and MRS findings.

Authors:  Ali Yusuf Oner; Ali Cansu; Sergin Akpek; Ayse Serdaroglu
Journal:  Pediatr Radiol       Date:  2007-08-18

10.  Phenotypic spectrum of fucosidosis in Tunisia.

Authors:  H Ben Turkia; N Tebib; H Azzouz; M S Abdelmoula; J Bouguila; H Sanhaji; N Miladi; I Maire; C Caillaud; N Kaabachi; M F Ben Dridi
Journal:  J Inherit Metab Dis       Date:  2008-07-27       Impact factor: 4.982

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