- A Novel Mutation of the TAZ Gene in Barth Syndrome: Acute Exacerbation after Contrast-Dye Injection
-
Kim GB, Kwon BS, Bae EJ, Noh CI, Seong MW, Park SS
- KMID: 1777570
- J Korean Med Sci.
- 2013 May;28(5):784-787.
- doi: 10.3346/jkms.2013.28.5.784
A 14-month-old boy was transferred because of dilated and hypertrophied left ventricle, neutropenia, and developmental delay. After checking computed tomographic angiography with contrast-dye, the patient showed acute exacerbation and finally... -
- CITED
-
- Close
- SHARE
-
- Close
- Identification of a Novel De Novo Mutation of the TAZ Gene in a Korean Patient with Barth Syndrome
-
Yoo TY, Kim MR, Son JS, Lee R, Bae SH, Chung S, Kim KS, Seong MW, Park SS
- KMID: 2308705
- J Cardiovasc Ultrasound.
- 2016 Jun;24(2):153-157.
- doi: 10.4250/jcu.2016.24.2.153
Barth syndrome (BTHS) is a rare genetic disorder characterized by various types of cardiomyopathy, neutropenia, failure to thrive, skeletal myopathy, and 3-methylglutaconic aciduria. BTHS is caused by loss-of-function mutations in... -
- CITED
-
- Close
- SHARE
-
- Close
- Left Ventricular Noncompaction Complicated with Myocardial Infarction with Barth Syndrome in a Newborn
-
Yoo GH
- KMID: 2328778
- Soonchunhyang Med Sci.
- 2016 Jun;22(1):38-41.
- doi: 10.0000/sms.2016.22.1.38
Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized by a hypertrabeculation of the left ventricle. Patients may present with heart failure, arrhythmia, and thromboembolism. LVNC may be isolated or... -
- CITED
-
- Close
- SHARE
-
- Close
