Literature DB >> 11295802

Delayed-onset dystonia associated with 3-oxothiolase deficiency.

C Yalçinkaya1, H Apaydin, S Ozekmekçi, K M Gibson.   

Abstract

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Year:  2001        PMID： 11295802     DOI： 10.1002/mds.1060

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  3 in total

1.  Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.

Authors:  Stéphanie Paquay; Agnès Bourillon; Samia Pichard; Jean-François Benoist; Pascale de Lonlay; Dries Dobbelaere; Alain Fouilhoux; Nathalie Guffon; Isabelle Rouvet; François Labarthe; Karine Mention; Guy Touati; Vassili Valayannopoulos; Hélène Ogier de Baulny; Monique Elmaleh-Bergès; Cécile Acquaviva-Bourdain; Christine Vianey-Saban; Manuel Schiff
Journal:  J Inherit Metab Dis       Date:  2017-03-02       Impact factor: 4.982

2.  Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals.

Authors:  Monica H Wojcik; Klaas J Wierenga; Lance H Rodan; Inderneel Sahai; Sacha Ferdinandusse; Casie A Genetti; Meghan C Towne; Roy W A Peake; Philip M James; Alan H Beggs; Catherine A Brownstein; Gerard T Berry; Pankaj B Agrawal
Journal:  JIMD Rep       Date:  2017-07-20

Review 3.  A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders.

Authors:  Juan Darío Ortigoza-Escobar
Journal:  Front Neurol       Date:  2020-11-13       Impact factor: 4.003
  3 in total

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