Literature DB >> 30729410

An unusual case of late-infantile onset Krabbe disease with selective bilateral corticospinal tract involvement, peripheral demyelinating neuropathy, and mild phenotype.

Francesco Nicita1, Federica Graziola2, Federico Vigevano3, Enrico Bertini4, Alessandro Capuano2,3.   

Abstract

Entities:  

Keywords:  Demyelinating; GALC; Galactocerebrosidase; Krabbe disease; Leukodystrophy; Neuropathy

Mesh：

Year:  2019        PMID： 30729410     DOI： 10.1007/s13760-019-01087-6

Source DB:  PubMed          Journal:  Acta Neurol Belg        ISSN： 0300-9009            Impact factor:   2.396


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  1 in total

1.  "Atypical" Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant.

Authors:  Francesco Nicita; Fabrizia Stregapede; Federica Deodato; Simone Pizzi; Simone Martinelli; Daria Pagliara; Chiara Aiello; Francesca Cumbo; Fiorella Piemonte; Jessica D'Amico; Stefano Pro; Daniela Longo; Silvia Genovese; Marco Tartaglia; Maria L Escolar; Enrico Bertini; Lorena Travaglini
Journal:  Eur J Hum Genet       Date:  2022-05-17       Impact factor: 5.351
  1 in total

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