Eponym: Barth syndrome

scientific article published on 23 September 2011

Eponym: Barth syndrome is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

External links are
P356DOI10.1007/S00431-011-1575-6
P698PubMed publication ID21947198
P5875ResearchGate publication ID51674273

P50authorIchizo NishinoQ37828689
P2093author name stringTadashi Ariga
Masafumi Yamada
Akira Sudo
Hirokuni Yamazawa
Atsuhito Takeda
Gaku Izumi
P2860cites workThe 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 syndromeQ35249701
Mutation characterization and genotype-phenotype correlation in Barth syndromeQ35249958
Cardiolipin metabolism and Barth SyndromeQ36379793
Lipid storage myopathyQ37806661
Deficiency of tetralinoleoyl-cardiolipin in Barth syndromeQ40719070
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 stillbirthQ24632525
Barth syndrome may be due to an acyltransferase deficiencyQ27936025
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)Q28139732
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an updateQ28257595
A novel X-linked gene, G4.5. is responsible for Barth syndromeQ28278751
Novel gene mutations in patients with left ventricular noncompaction or Barth syndromeQ32129470
X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndromeQ33676602
Genetic analysis of the G4.5 gene in families with suspected Barth syndromeQ33873859
An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytesQ34247905
Phospholipid abnormalities in children with Barth syndromeQ34281992
Cardiac and clinical phenotype in Barth syndromeQ34548373
Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome.Q34561904
X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduriaQ34595191
Bloodspot assay using HPLC-tandem mass spectrometry for detection of Barth syndromeQ34723466
Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28.Q34730418
Heart transplantation for Barth syndromeQ34738301
Molecular basis and therapy of disorders associated with chronic neutropeniaQ35195220
P433issue11
P304page(s)1365-1367
P577publication date2011-09-23
P1433published inEuropean Journal of PediatricsQ15755736
P1476titleEponym: Barth syndrome
P478volume170

Reverse relations

cites work (P2860)
Q36841154A novel mutation of the TAZ gene in Barth syndrome: acute exacerbation after contrast-dye injection.
Q38235840Inborn errors of metabolism underlying primary immunodeficiencies
Q45245380Mis-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
Q34651626Natural history of Barth syndrome: a national cohort study of 22 patients
Q36689686New clinical and molecular insights on Barth syndrome
Q26801275Successful management of Barth syndrome: a systematic review highlighting the importance of a flexible and multidisciplinary approach

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