Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth
about
Barth Syndrome: From Mitochondrial Dysfunctions Associated with Aberrant Production of Reactive Oxygen Species to Pluripotent Stem Cell StudiesSuccessful management of Barth syndrome: a systematic review highlighting the importance of a flexible and multidisciplinary approachBarth syndrome.Barth syndrome diagnosed in the subclinical stage of heart failure based on the presence of lipid storage myopathy and isolated noncompaction of the ventricular myocardiumDisorders of phospholipid metabolism: an emerging class of mitochondrial disease due to defects in nuclear genesHereditary Dilated Cardiomyopathy: Recent Advances in Genetic Diagnostics.Mitochondria-targeted antioxidant prevents cardiac dysfunction induced by tafazzin gene knockdown in cardiac myocytes.Natural history of Barth syndrome: a national cohort study of 22 patients.Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype.Tafazzin knockdown in mice leads to a developmental cardiomyopathy with early diastolic dysfunction preceding myocardial noncompaction.Diagnosis and management of heart failure in the fetusNew clinical and molecular insights on Barth syndromeIntra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndromeLeft ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome.Identification of TAZ mutations in pediatric patients with cardiomyopathy by targeted next-generation sequencing in a Chinese cohort.A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome.The PPAR pan-agonist bezafibrate ameliorates cardiomyopathy in a mouse model of Barth syndromeEponym: Barth syndrome.Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.Advances in the understanding of Barth syndrome.Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.Cardiomyopathy in a male patient with neutropenia and growth delayClinical Characteristics and Outcomes of Cardiomyopathy in Barth Syndrome: The UK Experience.Intrafamilial variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-uncle.A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth SyndromeSuccessful mechanical circulatory support for 251 days in a child with intermittent severe neutropenia due to Barth syndrome.Role of Cardiolipin in Mitochondrial Signaling PathwaysBarth syndrome cardiomyopathy.Prospective and Retrospective Diagnosis of Barth Syndrome Aided by Next-Generation Sequencing.Antenatal manifestations of inborn errors of metabolism: biological diagnosis.Antenatal manifestations of inborn errors of metabolism: prenatal imaging findings
P2860
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P2860
Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth
description
2010 nî lūn-bûn
@nan
2010 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth
@ast
Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth
@en
Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth
@nl
type
label
Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth
@ast
Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth
@en
Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth
@nl
prefLabel
Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth
@ast
Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth
@en
Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth
@nl
P2093
P2860
P356
P1433
P1476
Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth
@en
P2093
B Tsai-Goodman
I L Gonzalez
J L Cresswell
M Williams
O W Quarrell
R A Newbury-Ecob
R Hastings
S F Smithson
P2860
P304
P356
10.1002/PD.2599
P407
P577
2010-10-01T00:00:00Z