Literature DB >> 23818432

A treatable new cause of chorea: beta-ketothiolase deficiency.

Daniela Buhaş1, Geneviève Bernard, Toshiyuki Fukao, Jean-Claude Décarie, Sylvain Chouinard, Grant A Mitchell.   

Abstract

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Year:  2013        PMID： 23818432     DOI： 10.1002/mds.25538

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


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  9 in total

1.  Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years' experience of a medical center in northern Vietnam.

Authors:  Khanh Ngoc Nguyen; Elsayed Abdelkreem; Roberto Colombo; Yuki Hasegawa; Ngoc Thi Bich Can; Thao Phuong Bui; Hai Thanh Le; Mai Thi Chi Tran; Hoan Thi Nguyen; Hung Thanh Trinh; Yuka Aoyama; Hideo Sasai; Seiji Yamaguchi; Toshiyuki Fukao; Dung Chi Vu
Journal:  J Inherit Metab Dis       Date:  2017-02-20       Impact factor: 4.982

2.  Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.

Authors:  Martine Tetreault; Somayyeh Fahiminiya; Hana Antonicka; Grant A Mitchell; Michael T Geraghty; Matthew Lines; Kym M Boycott; Eric A Shoubridge; John J Mitchell; Jacques L Michaud; Jacek Majewski
Journal:  Hum Genet       Date:  2015-06-23       Impact factor: 4.132

3.  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

4.  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 5.  Ketone body metabolism and its defects.

Authors:  Toshiyuki Fukao; Grant Mitchell; Jörn Oliver Sass; Tomohiro Hori; Kenji Orii; Yuka Aoyama
Journal:  J Inherit Metab Dis       Date:  2014-04-08       Impact factor: 4.982

6.  A Novel Mutation of Beta-ketothiolase Deficiency: The First Report from Iran and Review of Literature.

Authors:  Rahim Vakili; Somayyeh Hashemian
Journal:  Iran J Child Neurol       Date:  2018

Review 7.  Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.

Authors:  Elsayed Abdelkreem; Rajesh K Harijan; Seiji Yamaguchi; Rikkert K Wierenga; Toshiyuki Fukao
Journal:  Hum Mutat       Date:  2019-07-03       Impact factor: 4.878

8.  Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders.

Authors:  Shekeeb S Mohammad; Rajeshwar Reddy Angiti; Andrew Biggin; Hugo Morales-Briceño; Robert Goetti; Belen Perez-Dueñas; Allison Gregory; Penelope Hogarth; Joanne Ng; Apostolos Papandreou; Kaustuv Bhattacharya; Shamima Rahman; Kristina Prelog; Richard I Webster; Evangeline Wassmer; Susan Hayflick; John Livingston; Manju Kurian; W Kling Chong; Russell C Dale
Journal:  Brain Commun       Date:  2020-10-26

9.  Unexplained Tachypneoa and Severe Metabolic Acidosis in a Three-Month-Old Child: A Rare Presentation of Beta-Ketothiolose Deficiency.

Authors:  Vijayakumary Thadchanamoorthy; Kavinda Dayasiri
Journal:  Cureus       Date:  2022-02-05
  9 in total

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