Literature DB >> 36092981

3-Methylglutaconic Aciduria Type I: A Rare Cause of Late-Onset Leukoencephalopathy.

Chiara Benzoni1, Stefania Magri1, Marco Moscatelli1, Silvia Fenu1, Claudio Caccia1, Franco Taroni1, Ettore Salsano1, Daniela Di Bella1.   

Abstract

Entities:  

Year:  2022        PMID： 36092981      PMCID： PMC9453697          DOI： 10.1212/NXG.0000000000200023

Source DB:  PubMed          Journal:  Neurol Genet        ISSN： 2376-7839


× No keyword cloud information.
  4 in total

1.  3-Methylglutaconic aciduria type I causes leukoencephalopathy of adult onset.

Authors:  M Eriguchi; H Mizuta; K Kurohara; M Kosugi; Y Yakushiji; R Okada; M Yukitake; Y Hasegawa; S Yamaguchi; Y Kuroda
Journal:  Neurology       Date:  2006-11-28       Impact factor: 9.910

2.  3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy.

Authors:  S B Wortmann; B H Kremer; A Graham; M A Willemsen; F J Loupatty; S L Hogg; U F Engelke; L A Kluijtmans; R J Wanders; S Illsinger; B Wilcken; J R Cruysberg; A M Das; E Morava; R A Wevers
Journal:  Neurology       Date:  2010-09-21       Impact factor: 9.910

Review 3.  Neurological manifestations of organic acidurias.

Authors:  Moacir Wajner
Journal:  Nat Rev Neurol       Date:  2019-05       Impact factor: 42.937

4.  NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism.

Authors:  Udo F H Engelke; Berry Kremer; Leo A J Kluijtmans; Marinette van der Graaf; Eva Morava; Ference J Loupatty; Ronald J A Wanders; Detlef Moskau; Sandra Loss; Erik van den Bergh; Ron A Wevers
Journal:  NMR Biomed       Date:  2006-04       Impact factor: 4.044
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.