Literature DB >> 35113260

An adult patient with 3-methylglutaconic aciduria type 1 and movement disorders.

M Mainardi1, L Lerjefors1, G Bonato1, C Bertolin2, L Salviati2, M Carecchio3.   

Abstract

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Year:  2022        PMID： 35113260     DOI： 10.1007/s00415-022-10999-y

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  2 in total

1.  Acute Encephalopathic Presentation of 3-Methylglutaconic Aciduria Type I With a Novel Mutation in AUH Gene.

Authors:  Sai Chandar Dudipala; Prashanthi M; Krishna Chaithanya B; Laxman Kumar Chenalla
Journal:  Cureus       Date:  2020-12-07
  2 in total
  1 in total

1.  A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome.

Authors:  Monica Fumagalli; Dario Ronchi; Maria Francesca Bedeschi; Arianna Manini; Gloria Cristofori; Fabio Mosca; Robertino Dilena; Monica Sciacco; Simona Zanotti; Daniela Piga; Gianluigi Ardissino; Fabio Triulzi; Stefania Corti; Giacomo P Comi; Leonardo Salviati
Journal:  Mol Genet Metab Rep       Date:  2022-06-18
  1 in total

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