Related references
Note: Only part of the references are listed.Seven functional classes of Barth syndrome mutation
Kevin Whited et al.
HUMAN MOLECULAR GENETICS (2013)
The Barth Syndrome Registry: Distinguishing disease characteristics and growth data from a longitudinal study
Amy E. Roberts et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
The 3-methylglutaconic acidurias: what's new?
Saskia B. Wortmann et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2012)
Barth syndrome in a female patient
Laure Cosson et al.
MOLECULAR GENETICS AND METABOLISM (2012)
Left Ventricular Noncompaction Cardiomyopathy in Barth Syndrome: An Example of an Undulating Cardiac Phenotype Necessitating Mechanical Circulatory Support as a Bridge to Transplantation
Samuel P. Hanke et al.
PEDIATRIC CARDIOLOGY (2012)
New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies
Tiina Ojala et al.
PEDIATRIC RESEARCH (2012)
Tafazzin Knockdown in Mice Leads to a Developmental Cardiomyopathy With Early Diastolic Dysfunction Preceding Myocardial Noncompaction
Colin K. L. Phoon et al.
JOURNAL OF THE AMERICAN HEART ASSOCIATION (2012)
Impaired cardiac reserve and severely diminished skeletal muscle O2 utilization mediate exercise intolerance in Barth syndrome
Carolyn T. Spencer et al.
AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY (2011)
Cardiolipin Affects the Supramolecular Organization of ATP Synthase in Mitochondria
Devrim Acehan et al.
BIOPHYSICAL JOURNAL (2011)
Barth syndrome diagnosed in the subclinical stage of heart failure based on the presence of lipid storage myopathy and isolated noncompaction of the ventricular myocardium
Atsuhito Takeda et al.
EUROPEAN JOURNAL OF PEDIATRICS (2011)
Cardiac and Skeletal Muscle Defects in a Mouse Model of Human Barth Syndrome
Devrim Acehan et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2011)
Reduction in cholesterol synthesis in response to serum starvation in lymphoblasts of a patient with Barth syndrome
Kristin D. Hauff et al.
BIOCHEMISTRY AND CELL BIOLOGY (2010)
Gonadal mosaicism of a TAZ (G4.5) mutation in a Japanese family with Barth syndrome and left ventricular noncompaction
Bo Chang et al.
MOLECULAR GENETICS AND METABOLISM (2010)
Fetal sex determination using circulating cell-free fetal DNA (ccffDNA) at 11 to 13 weeks of gestation
Ranjit Akolekar et al.
PRENATAL DIAGNOSIS (2010)
Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth
C. G. Steward et al.
PRENATAL DIAGNOSIS (2010)
A Novel Alu-Mediated Xq28 Microdeletion Ablates TAZ and Partially Deletes DNL1L in a Patient With Barth Syndrome
Harinder R. Singh et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome
Riekelt H. Houtkooper et al.
ANALYTICAL BIOCHEMISTRY (2009)
Cardiolipin and mitochondrial carriers
Martin Klingenberg
BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES (2009)
Dysmorphology of Barth syndrome
Rob Hastings et al.
CLINICAL DYSMORPHOLOGY (2009)
Mitochondrial Cardiolipin Involved in Outer-Membrane Protein Biogenesis: Implications for Barth Syndrome
Natalia Gebert et al.
CURRENT BIOLOGY (2009)
Mitochondrial defects lie at the basis of neutropenia in Barth syndrome
Bram J. van Raam et al.
CURRENT OPINION IN HEMATOLOGY (2009)
Distinct effects of tafazzin deletion in differentiated and undifferentiated mitochondria
Devrim Acehan et al.
MITOCHONDRION (2009)
Bloodspot assay using HPLC-tandem mass spectrometry for detection of Barth syndrome
Willem Kulik et al.
CLINICAL CHEMISTRY (2008)
Cardiolipin and electron transport chain abnormalities in mouse brain tumor mitochondria: lipidomic evidence supporting the Warburg theory of cancer
Michael A. Kiebish et al.
JOURNAL OF LIPID RESEARCH (2008)
Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review
Ting-Yu Yen et al.
EUROPEAN JOURNAL OF PEDIATRICS (2008)
Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes
Nicola Marziliano et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Cardiolipin: Setting the beat of apoptosis
Francois Gonzalvez et al.
APOPTOSIS (2007)
Comparison of lymphoblast mitochondria from normal subjects and patients with Barth syndrome using electron microscopic tomography
Devrim Acehan et al.
LABORATORY INVESTIGATION (2007)
New insights into the regulation of cardiolipin biosynthesis in yeast: Implications for Barth syndrome
Guiling Li et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS (2007)
Cardiac features of a novel autosomal recessive dilated cardiomyopathic syndrome due to defective importation of mitochondrial protein
Rebecca Sparkes et al.
CARDIOLOGY IN THE YOUNG (2007)
Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome
Michiel Adriaan van Werkhoven et al.
JOURNAL OF LIPID RESEARCH (2006)
Stroke associated with Barth syndrome
Beau M. Ances et al.
JOURNAL OF CHILD NEUROLOGY (2006)
A Drosophila model of Barth syndrome
Yang Xu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
Cardiac and clinical phenotype in Barth syndrome
Carolyn T. Spencer et al.
PEDIATRICS (2006)
A zebrafish model of human Barth syndrome reveals the essential role of tafazzin in cardiac development and function
Zaza Khuchua et al.
CIRCULATION RESEARCH (2006)
Cardiolipin metabolism and Barth Syndrome
KD Hauff et al.
PROGRESS IN LIPID RESEARCH (2006)
Clinicopathologic conference: Barth syndrome
JC Huhta et al.
FETAL AND PEDIATRIC PATHOLOGY (2005)
Characterization of lymphoblast mitochondria from patients with Barth syndrome
Y Xu et al.
LABORATORY INVESTIGATION (2005)
Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis
F Valianpour et al.
JOURNAL OF LIPID RESEARCH (2005)
Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis
TW Kuijpers et al.
BLOOD (2004)
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): An update
PG Barth et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
Earliest gestational age for fetal sexing in cell-free maternal plasma
RJP Rijnders et al.
PRENATAL DIAGNOSIS (2003)
Phospholipid abnormalities in children with Barth syndrome
M Schlame et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2003)
Clinical characterization of left ventricular noncompaction in children - A relatively common form of cardiomyopathy
RH Pignatelli et al.
CIRCULATION (2003)
The epidemiology of childhood cardiomyopathy in Australia
AW Nugent et al.
NEW ENGLAND JOURNAL OF MEDICINE (2003)
Long-term treatment of Barth syndrome with pantothenic acid: a retrospective study
S Rugolotto et al.
MOLECULAR GENETICS AND METABOLISM (2003)
Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome
M Schlame et al.
ANNALS OF NEUROLOGY (2002)
Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome
P Vreken et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2000)
The biosynthesis and functional role of cardiolipin
M Schlame et al.
PROGRESS IN LIPID RESEARCH (2000)
Share Paper
