Literature DB >> 30713905

Methylmalonic Aciduria: A Treatable Disorder of Which Adult Neurologists Need to Be Aware.

Ai Huey Tan1, Jordina Siu Yi Mah1,2, Meow Keong Thong3, Shen-Yang Lim1.   

Abstract

Entities:  

Keywords:  ataxia; dystonia; epilepsy; methylmalonic acidemia; methylmalonic aciduria; pallidum

Year:  2015        PMID： 30713905      PMCID： PMC6353345          DOI： 10.1002/mdc3.12237

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  3 in total

1.  Bilateral subthalamic nucleus deep brain stimulation for refractory total body dystonia secondary to metabolic autopallidotomy in a 4-year-old boy with infantile methylmalonic acidemia: case report.

Authors:  Santo Chakraborti; Harutomo Hasegawa; Daniel E Lumsden; Wisam Ali; Margaret Kaminska; Jean-Pierre Lin; Keyoumars Ashkan
Journal:  J Neurosurg Pediatr       Date:  2013-08-16       Impact factor: 2.375

2.  Neurological outcome of methylmalonic acidaemia.

Authors:  P Nicolaides; J Leonard; R Surtees
Journal:  Arch Dis Child       Date:  1998-06       Impact factor: 3.791

Review 3.  Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.

Authors:  Matthias R Baumgartner; Friederike Hörster; Carlo Dionisi-Vici; Goknur Haliloglu; Daniela Karall; Kimberly A Chapman; Martina Huemer; Michel Hochuli; Murielle Assoun; Diana Ballhausen; Alberto Burlina; Brian Fowler; Sarah C Grünert; Stephanie Grünewald; Tomas Honzik; Begoña Merinero; Celia Pérez-Cerdá; Sabine Scholl-Bürgi; Flemming Skovby; Frits Wijburg; Anita MacDonald; Diego Martinelli; Jörn Oliver Sass; Vassili Valayannopoulos; Anupam Chakrapani
Journal:  Orphanet J Rare Dis       Date:  2014-09-02       Impact factor: 4.123
  3 in total
  1 in total

1.  Oromandibular Dystonia - A Systematic Review.

Authors:  Udit Saraf; Mitesh Chandarana; K P Divya; Syam Krishnan
Journal:  Ann Indian Acad Neurol       Date:  2021-10-22       Impact factor: 1.383
  1 in total

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