Barth Syndrome: Different Approaches to Diagnosis-Reference-Cited by-同舟云学术

Barth Syndrome: Different Approaches to Diagnosis

Published:2018-02 Issue: Volume:193 Page:256-260
ISSN:0022-3476
Container-title:The Journal of Pediatrics
language:en
Short-container-title:The Journal of Pediatrics

Author:

Imai-Okazaki Atsuko,Kishita Yoshihito,Kohda Masakazu,Yatsuka Yukiko,Hirata Tomoko,Mizuno Yosuke,Harashima Hiroko,Hirono Keiichi,Ichida Fukiko,Noguchi Atsuko,Yoshida Masayuki,Tokorodani Chiho,Nishiuchi Ritsuo,Takeda Atsuhito,Nakaya Akihiro,Sakata Yasushi,Murayama Kei,Ohtake Akira,Okazaki Yasushi

Funder

JSPS KAKENHI

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology, and Child Health

Reference17 articles.

1. Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome;Ichida;Circulation,2001

2. Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature;Wortmann;J Inherit Metab Dis,2013

3. Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth syndrome;van Werkhoven;J Lipid Res,2006

4. Phospholipid abnormalities in children with Barth syndrome;Schlame;J Am Coll Cardiol,2003

5. A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathy;Borna;J Hum Genet,2017

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1. Primary Mitochondrial Disorders in the Neonate;NeoReviews;2022-12-01

2. Barth Syndrome Cardiomyopathy: An Update;Genes;2022-04-08

3. Elamipretide for Barth syndrome cardiomyopathy: gradual rebuilding of a failed power grid;Heart Failure Reviews;2021-10-08

4. Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients;International Journal of Cardiology;2021-10

5. Disease Modeling of Mitochondrial Cardiomyopathy Using Patient-Specific Induced Pluripotent Stem Cells;Biology;2021-09-29