Literature DB >> 30086111

Neuroimaging Findings in Lysosomal Disorders: 2018 Update.

Felice D'Arco1, Prasad Hanagandi2, Mario Ganau3, Pradeep Krishnan4, Ajay Taranath5.   

Abstract

Lysosomal storage disorders are a heterogeneous group of genetic diseases characterized by defective function in one of the lysosomal enzymes. In this review paper, we describe neuroradiological findings and clinical characteristics of neuronopathic lysosomal disorders with a focus on differential diagnosis. New insights regarding pathogenesis and therapeutic perspectives are also briefly discussed.

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Year:  2018        PMID： 30086111     DOI： 10.1097/RMR.0000000000000174

Source DB:  PubMed          Journal:  Top Magn Reson Imaging        ISSN： 0899-3459


  3 in total

1.  Fetal and neonatal MRI features of ARX-related lissencephaly presenting with neonatal refractory seizure disorder.

Authors:  Sara Ffrench-Constant; Carolina Kachramanoglou; Brynmor Jones; Nigel Basheer; Nikolaos Syrmos; Mario Ganau; Wajanat Jan
Journal:  Quant Imaging Med Surg       Date:  2019-11

2.  Pontocerebellar atrophy is the hallmark neuroradiological finding in late-onset Tay-Sachs disease.

Authors:  Jitka Májovská; Anita Hennig; Igor Nestrasil; Susanne A Schneider; Helena Jahnová; Manuela Vaněčková; Martin Magner; Petr Dušek
Journal:  Neurol Sci       Date:  2021-11-20       Impact factor: 3.830

3.  Fumaric Aciduria: A Rare Cause of Refractory Epilepsy.

Authors:  Sangeetha Yoganathan; Rangan Srinivasaraghavan; Madhan Kumar; Lisa Kratz; Shraddha Mular; Sniya V Sudhakar; Prateek Malik; Mahalakshmi Chandran; Maya Thomas; Sumita Danda
Journal:  Ann Indian Acad Neurol       Date:  2022-09-09       Impact factor: 1.714
  3 in total

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