review article | Q7318358 |
scholarly article | Q13442814 |
P50 | author | Ichizo Nishino | Q37828689 |
P2093 | author name string | Tadashi Ariga | |
Masafumi Yamada | |||
Akira Sudo | |||
Hirokuni Yamazawa | |||
Atsuhito Takeda | |||
Gaku Izumi | |||
P2860 | cites work | The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. | Q35249677 |
Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome | Q35249701 | ||
Mutation characterization and genotype-phenotype correlation in Barth syndrome | Q35249958 | ||
Cardiolipin metabolism and Barth Syndrome | Q36379793 | ||
Lipid storage myopathy | Q37806661 | ||
Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome | Q40719070 | ||
Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome. | Q46005237 | ||
Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth | Q24632525 | ||
Barth syndrome may be due to an acyltransferase deficiency | Q27936025 | ||
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060) | Q28139732 | ||
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update | Q28257595 | ||
A novel X-linked gene, G4.5. is responsible for Barth syndrome | Q28278751 | ||
Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome | Q32129470 | ||
X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome | Q33676602 | ||
Genetic analysis of the G4.5 gene in families with suspected Barth syndrome | Q33873859 | ||
An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes | Q34247905 | ||
Phospholipid abnormalities in children with Barth syndrome | Q34281992 | ||
Cardiac and clinical phenotype in Barth syndrome | Q34548373 | ||
Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome. | Q34561904 | ||
X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria | Q34595191 | ||
Bloodspot assay using HPLC-tandem mass spectrometry for detection of Barth syndrome | Q34723466 | ||
Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28. | Q34730418 | ||
Heart transplantation for Barth syndrome | Q34738301 | ||
Molecular basis and therapy of disorders associated with chronic neutropenia | Q35195220 | ||
P433 | issue | 11 | |
P304 | page(s) | 1365-1367 | |
P577 | publication date | 2011-09-23 | |
P1433 | published in | European Journal of Pediatrics | Q15755736 |
P1476 | title | Eponym: Barth syndrome | |
P478 | volume | 170 |
Q36841154 | A novel mutation of the TAZ gene in Barth syndrome: acute exacerbation after contrast-dye injection. |
Q38235840 | Inborn errors of metabolism underlying primary immunodeficiencies |
Q45245380 | Mis-sesnse mutations in Tafazzin (TAZ) that escort to mild clinical symptoms of Barth syndrome is owed to the minimal inhibitory effect of the mutations on the enzyme function: In-silico evidence |
Q34651626 | Natural history of Barth syndrome: a national cohort study of 22 patients |
Q36689686 | New clinical and molecular insights on Barth syndrome |
Q26801275 | Successful management of Barth syndrome: a systematic review highlighting the importance of a flexible and multidisciplinary approach |
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