Literature DB >> 35844283

Progressive Generalized Dystonia-Parkinsonism in a Child with Fumaric Aciduria.

Diogo Reis-Carneiro1, Conceição Robalo2, Mário Laço3, Marie Vidailhet4,5, Luísa Diogo6.   

Abstract

Entities:  

Keywords:  dystonia; fumaric aciduria; inherited metabolic disorder; parkinsonism; pediatric

Year:  2022        PMID： 35844283      PMCID： PMC9274347          DOI： 10.1002/mdc3.13450

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


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  7 in total

1.  Fumarate hydratase deficiency.

Authors:  E Bonioli; A Di Stefano; V Peri; U Caruso; R Cerone; E Lamantea; F Taroni; C Bellini
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

2.  Fumaric aciduria: clinical and imaging features.

Authors:  J F Kerrigan; K A Aleck; T J Tarby; C R Bird; R A Heidenreich
Journal:  Ann Neurol       Date:  2000-05       Impact factor: 10.422

3.  Fumaric aciduria: a new organic aciduria, associated with mental retardation and speech impairment.

Authors:  D T Whelan; R E Hill; S McClorry
Journal:  Clin Chim Acta       Date:  1983-08-31       Impact factor: 3.786

Review 4.  Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer.

Authors:  N A Alam; S Olpin; I M Leigh
Journal:  Br J Dermatol       Date:  2005-07       Impact factor: 9.302

5.  Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.

Authors:  T Bourgeron; D Chretien; J Poggi-Bach; S Doonan; D Rabier; P Letouzé; A Munnich; A Rötig; P Landrieu; P Rustin
Journal:  J Clin Invest       Date:  1994-06       Impact factor: 14.808

6.  Fumarase deficiency: a new cause of mitochondrial encephalomyopathy.

Authors:  A B Zinn; D S Kerr; C L Hoppel
Journal:  N Engl J Med       Date:  1986-08-21       Impact factor: 91.245

Review 7.  Fumarase Deficiency: A Case With a New Pathogenic Mutation and a Review of the Literature.

Authors:  Marieke Peetsold; Susan Goorden; Martijn Breuning; Monique Williams; Jaap Bakker; Ed Jacobs; Lydia Hussaarts-Odijk; Cacha Peeters
Journal:  J Child Neurol       Date:  2020-10-14       Impact factor: 1.987
  7 in total

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