Barth syndrome

Published Categorized as Genetics
Barth syndrome

Barth syndrome is a rare genetic condition with altered mitochondrial function, often associated with cardiomyopathy and skeletal muscle weakness. It is also known by other names such as Tafazzin-related X-linked mitochondrial disorder and 3-Methylglutaconic Aciduria type II. The syndrome is caused by changes (mutations) in the TAZ gene, responsible for the production of the protein tafazzin. This gene is located on the X chromosome and inheritance of Barth syndrome follows a recessive pattern.

The frequency of Barth syndrome is currently estimated to be about 1 in 300,000 live births. The condition primarily affects males, although there have been reports of affected females with milder symptoms. The main clinical features include weakened heart muscle (cardiomyopathy), low white blood cell count (neutropenia), growth delay, and skeletal muscle weakness. In some cases, individuals with Barth syndrome may also exhibit motor skill delays, feeding difficulties, and increased risk for infections.

Diagnosis of Barth syndrome is often based on clinical findings and genetic testing. Testing for changes in the TAZ gene can confirm the diagnosis. Additionally, other laboratory tests such as urine analysis and heart function tests may be performed to gather more information about the condition.

There are currently no specific treatments for Barth syndrome, but supportive care can help manage the symptoms and improve quality of life. This may include medications to support heart function, nutritional support, physical therapy, and close monitoring for complications. Ongoing research aims to uncover more about the causes and mechanisms of Barth syndrome, and clinical trials are underway to test potential therapeutic options.

For more information about Barth syndrome, resources such as the Barth Syndrome Foundation and other advocacy groups can provide support and educational materials. Additionally, scientific articles, genetic databases (such as OMIM and Orphanet), and the ClinicalTrials.gov catalog can be consulted for further reading and research on this rare condition.

Frequency

Barth syndrome is a rare genetic condition that affects many parts of the body. According to studies and resources like Orphanet, the frequency of Barth syndrome is estimated to be around 1 in 300,000 to 1 in 400,000 live births. This makes it a very rare condition.

Barth syndrome is inherited in an X-linked recessive manner, which means it mainly affects boys. Girls can also be carriers of the gene mutation, but they usually do not experience symptoms. The gene associated with Barth syndrome is called the TAZ gene, and it provides instructions for making a protein called tafazzin. Mutations in the TAZ gene result in an altered form of tafazzin, which affects the function of mitochondria in the body.

Barth syndrome is often diagnosed in infancy or early childhood. The most commonly experienced symptoms include muscle weakness and fatigue, delayed growth, and cardiomyopathy (weakened heart muscle). Other symptoms and associated conditions can vary from person to person.

Diagnosis of Barth syndrome is typically made through genetic testing to identify mutations in the TAZ gene. This testing can be done through specialized laboratories and genetic centers. Additionally, urine and blood tests can be conducted to measure abnormal levels of specific compounds that are associated with the syndrome.

As a rare condition, there is limited scientific research and resources available on Barth syndrome. However, there are several advocacy and support organizations, such as the Barth Syndrome Foundation, that provide information and resources for patients and families affected by the condition. Clinical trials and research studies are also ongoing to further understand the underlying causes and develop new treatment options.

References:

Causes

The cause of Barth syndrome is a genetic mutation that affects a specific gene called TAZ. This gene is responsible for producing a protein called tafazzin, which plays a crucial role in the mitochondria – the powerhouse of the cell – and is necessary for normal heart, muscle, and immune system function.

Most cases of Barth syndrome are inherited in an X-linked recessive manner. This means that the condition primarily affects males, as they have only one X chromosome. Females, who have two X chromosomes, are typically unaffected carriers of the mutation. However, rare cases have been reported in which females present symptoms of Barth syndrome.

The TAZ gene mutation in Barth syndrome leads to insufficient and altered production of tafazzin protein. This dysfunction affects multiple organs and systems in the body, resulting in the characteristic features and symptoms of the syndrome.

Patients with Barth syndrome often experience cardiomyopathy, a condition in which the heart muscle becomes weak and enlarged. The altered tafazzin protein impairs the heart’s ability to pump blood effectively, causing symptoms such as fatigue, shortness of breath, and abnormal heart rhythms.

Additionally, the skeletal muscles, white blood cells, and other tissues can be affected by the gene mutation, leading to muscle weakness, recurrent infections, and growth delays.

Research and scientific studies have identified other genes associated with syndromes similar to Barth syndrome. However, these conditions are distinct from Barth syndrome and have their own set of causes, symptoms, and specific gene mutations.

To diagnose Barth syndrome, genetic testing is typically performed to identify mutations in the TAZ gene. This information helps confirm the diagnosis and provides important guidance for managing the condition.

More information about the genetic causes of Barth syndrome can be found in scientific articles, research studies, and genetic disease databases such as PubMed, Orphanet, and the Barth Syndrome Foundation’s online catalog of articles.

Learning about the causes of Barth syndrome and the specific gene mutations involved is essential for ongoing research, improved testing, and the development of potential new treatments and interventions for patients with the condition.

Learn more about the gene associated with Barth syndrome

Barth syndrome is a rare genetic condition that affects the function of the mitochondria, the powerhouses of the cells. This syndrome is caused by mutations in the tafazzin (TAZ) gene.

The TAZ gene provides instructions for making a protein that is involved in the formation of cardiolipin, a type of fat molecule that is essential for the normal function of mitochondria. Mutations in the TAZ gene lead to a decreased amount of cardiolipin in the mitochondria, which affects their ability to produce energy.

Patients with Barth syndrome often experience a variety of symptoms, including muscle weakness and fatigue, delayed growth, heart problems, and increased frequency of infections. The severity of the symptoms can vary from person to person.

Inheritance and prevalence

Barth syndrome is inherited in an X-linked recessive manner, which means that the condition primarily affects males. Females who carry one copy of the mutated TAZ gene often do not show symptoms, but they can pass the condition on to their children.

Barth syndrome is a rare disease, with an estimated prevalence of 1 in 300,000 to 400,000 individuals worldwide.

Research and resources

Research on Barth syndrome is ongoing, and scientists are working to understand the underlying causes of the condition and develop potential treatments. Several resources are available to learn more about the gene associated with Barth syndrome:

  • The Barth Syndrome Foundation provides information and resources for patients and their families.
  • The National Center for Biotechnology Information (NCBI) offers a catalog of scientific articles and references related to Barth syndrome.
  • The ClinicalTrials.gov database lists ongoing clinical trials for Barth syndrome.
  • Orphanet is a European reference portal for rare diseases that provides information on Barth syndrome.
  • The Genetic Testing Registry offers a list of laboratories that provide genetic testing for Barth syndrome.

By learning more about the gene associated with Barth syndrome, we can better understand this rare condition and support patients and their families.

Inheritance

Barth syndrome is an X-linked recessive condition, which means that the altered gene associated with the syndrome is located on the X chromosome. This type of inheritance pattern affects primarily males, as they have only one X chromosome, while females have two copies of the X chromosome.

In most cases, the genetic alteration that causes Barth syndrome is a mutation in the TAZ gene, which codes for the Tafazzin protein. This protein is involved in the normal function of mitochondria, the powerhouses of the cell. Due to the altered gene, individuals with Barth syndrome have mitochondrial dysfunction.

The TAZ gene is responsible for encoding the Tafazzin protein, which is involved in maintaining the structure and function of cardiolipin, a specific lipid within mitochondrial membranes. The altered Tafazzin protein leads to abnormalities in cardiolipin levels and composition, resulting in mitochondrial dysfunction and impaired energy production.

Barth syndrome is often diagnosed during infancy or early childhood due to its characteristic features. These features may include cardiomyopathy (a weakened and enlarged heart), an increased frequency of infections, muscle weakness, and decreased ability to conduct physical exertion. Additionally, individuals with Barth syndrome may experience delayed growth and development, altered metabolism, and increased levels of certain substances in urine.

See also  XK gene

Genetic testing is available to confirm the diagnosis of Barth syndrome. Testing the TAZ gene can help identify the specific genetic alteration present in an individual. This information can be important for genetic counseling, as it can provide information about the risk of passing the condition on to future generations.

For more information about inheritance and the genetic aspects of Barth syndrome, you can refer to scientific resources such as OMIM, PubMed, and Orphanet. These databases contain valuable references and research studies on the topic. Additionally, organizations like the Barth Syndrome Foundation and the Barth Syndrome UK & Ireland provide support, advocacy, and resources for individuals and families affected by the syndrome.

Other Names for This Condition

Barth syndrome is also known by other names, including:

  • Tafazzin gene deficiency
  • 3-methylglutaconic aciduria type II
  • Cardiomyopathy, infantile, X-linked

These names reflect different aspects of the condition, such as the affected gene (tafazzin), the presence of metabolic abnormalities (3-methylglutaconic aciduria), and the clinical manifestation of heart problems in infancy (infantile cardiomyopathy).

It is important to note that Barth syndrome is a rare disorder, and therefore there may be limited resources available for patients and families. However, there are various organizations and research centers that provide information and support for individuals affected by this condition. Some of these resources include:

  • The Barth Syndrome Foundation
  • Genetic Testing Registry
  • ClinicalTrials.gov
  • Orphanet
  • PubMed

These resources can provide more information on the causes, symptoms, and management of Barth syndrome. They can also help individuals find clinical trials, genetic testing centers, and additional scientific studies related to this condition.

If you or someone you know has been diagnosed with Barth syndrome, it is important to seek medical advice and support from healthcare professionals experienced in treating this rare disease. They can provide personalized guidance and recommend appropriate treatment options based on the individual’s specific needs.

Additional Information Resources

For more scientific information about Barth syndrome, the following resources may be helpful:

  • The Barth Syndrome Foundation: This organization provides information and support for patients, families, and healthcare professionals. They have resources on the genetic causes of Barth syndrome, clinical presentations, and management options. Visit their website here.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog contains detailed information on the genetics of Barth syndrome. It provides information on genes, inheritance patterns, and clinical features. Access the catalog here.
  • PubMed: PubMed is a database that contains a vast collection of scientific articles on various topics, including Barth syndrome. You can search for relevant studies and publications related to the syndrome here.
  • Orphanet: Orphanet is a comprehensive resource that provides information on rare diseases, including Barth syndrome. It offers resources on the epidemiology, clinical presentation, and management of the condition. Visit their website here.
  • Genetics Home Reference: This resource from the National Library of Medicine offers information on the genetics of Barth syndrome and its associated genes. It explains the function of the TAZ gene (also known as tafazzin) and how alterations in this gene can lead to the condition. Access the resource here.

In addition, patients and families may find the following resources helpful:

  • Barth Syndrome Foundation Support Center: The Barth Syndrome Foundation has a support center that provides assistance to patients and families affected by the syndrome. They offer guidance on managing the condition, connecting with other families, and accessing resources. Contact the support center here.
  • Barth Syndrome Foundation Advocacy: The Barth Syndrome Foundation advocates for increased research, awareness, and support for individuals with Barth syndrome and their families. They work to improve the lives of those affected by the condition. Learn more about their advocacy efforts here.

For more information on ongoing research studies, clinical trials, and centers specializing in Barth syndrome, the following resources can be consulted:

  • ClinicalTrials.gov: ClinicalTrials.gov is a registry of federally and privately supported clinical trials. It provides information on ongoing clinical trials related to Barth syndrome, including studies on new treatments and management strategies. Search for relevant trials here.
  • Barth Syndrome Foundation Centers of Expertise: The Barth Syndrome Foundation has designated Centers of Expertise that specialize in the diagnosis and management of Barth syndrome. These centers have dedicated healthcare professionals with expertise in the condition. Find a list of the centers here.
  • White Paper on Barth Syndrome: The white paper on Barth syndrome, authored by Carolyn J. Newbury-Ecob and other specialists, provides comprehensive information on the condition. It covers various aspects, such as clinical features, genetics, and management strategies. Access the white paper here.

Genetic Testing Information

Genetic testing is a valuable tool for diagnosing Barth syndrome and understanding its causes. This testing involves analyzing the patient’s DNA to look for alterations in the TAZ gene, which is associated with this condition.

Barth syndrome is a rare genetic disorder that primarily affects males. It is caused by mutations in the TAZ gene, which provides instructions for making the tafazzin protein. Tafazzin is involved in the structure and function of mitochondria, the energy-producing centers within cells. Mutations in the TAZ gene can lead to mitochondrial dysfunction, resulting in the symptoms and characteristics of Barth syndrome.

Genetic testing can help confirm a diagnosis of Barth syndrome in individuals who have signs and symptoms consistent with the condition. It can also be used to identify carriers of the TAZ gene mutation, which is important for family planning and genetic counseling.

There are different types of genetic tests available for Barth syndrome, including DNA sequencing to detect specific mutations in the TAZ gene. Additionally, testing can determine the number of copies of the TAZ gene present in a patient. This information is important because increased TAZ gene copies can indicate an altered gene function and a higher likelihood of developing symptoms of the condition.

Genetic testing for Barth syndrome is usually offered through specialized genetic testing centers. These centers have the expertise and resources to perform the necessary tests and interpret the results.

It’s important to note that while genetic testing can provide valuable information, it cannot predict the severity or course of the disease. The symptoms and prognosis of Barth syndrome can vary widely among individuals, even within the same family.

For more information about genetic testing for Barth syndrome, you can consult the following resources:

  • OMIM: The Online Mendelian Inheritance in Man catalog provides detailed information on genetic disorders, including Barth syndrome.
  • Orphanet: This online resource offers information on rare diseases, including Barth syndrome.
  • PubMed: The scientific literature database contains many articles and research studies on Barth syndrome and related topics.
  • ClinicalTrials.gov: This database lists clinical trials and research studies related to Barth syndrome. It can provide information on ongoing research and potential opportunities for patient participation.
  • Barth Syndrome Foundation: This advocacy and support center for individuals with Barth syndrome offers additional resources and information on genetic testing and other topics related to the condition.

Genetic testing can provide crucial information for individuals and families affected by Barth syndrome. It can aid in diagnosis, family planning, genetic counseling, and ongoing research efforts to better understand and support individuals with this condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an online resource provided by the National Institutes of Health (NIH). GARD provides information about genetic and rare diseases, including the Barth syndrome, to help patients, families, and healthcare providers better understand these conditions.

Barth syndrome is a rare genetic syndrome associated with alterations in the TAZ gene. This gene is located on the X chromosome and is important for the normal function of mitochondria, the energy-producing structures within our cells. When the TAZ gene is altered, it leads to a deficiency of the tafazzin protein, which is essential for the normal functioning of mitochondria.

The Barth syndrome is classified as an orphanet disease, meaning it is a rare condition with a prevalence of less than 1 in 2000 individuals. It primarily affects males, as the TAZ gene is located on the X chromosome and is inherited in an X-linked recessive manner. Females can also be carriers of the gene mutation and may experience mild symptoms.

The most common symptoms of Barth syndrome include cardiomyopathy, which is an enlarged and weakened heart muscle, and muscle weakness. Individuals with Barth syndrome often have increased levels of certain substances in their urine, such as 3-methylglutaconic acid and 2-methylbutyrylglycine. Diagnosis of Barth syndrome is typically based on clinical symptoms, genetic testing, and urine testing.

There is currently no cure for Barth syndrome, and treatment aims to manage the symptoms and improve the quality of life for affected individuals. This may include medications to support heart function, physical therapy to improve muscle strength, and careful monitoring of overall health. Ongoing research is aimed at understanding more about the syndrome and developing new treatment options.

Barth syndrome is named after Dr. Peter Barth, who first described the condition in 1983. Since then, there have been numerous scientific studies and research articles published on this syndrome. GARD provides a comprehensive catalog of resources and references related to Barth syndrome, including information from OMIM, PubMed, and clinicaltrials.gov.

In addition to providing information, GARD also offers support and advocacy for individuals and families affected by Barth syndrome. They connect patients with patient support groups and organizations that can provide additional resources and assistance.

See also  KRT14 gene

Overall, the Genetic and Rare Diseases Information Center is a valuable resource for learning more about genetic and rare diseases, including Barth syndrome. It provides up-to-date information, resources, and support to help individuals and families navigate their journey with this condition.

Patient Support and Advocacy Resources

Barth syndrome is a rare genetic disorder characterized by an altered ability of the body to produce energy. It is often associated with cardiomyopathy, which causes increased frequency of heart problems. Patients with Barth syndrome may experience muscle weakness, fatigue, and delayed growth.

If you or a loved one has been diagnosed with Barth syndrome, it is important to find resources and support. Here are some patient support and advocacy resources that can provide information and assistance:

  • Barth Syndrome Foundation: The Barth Syndrome Foundation is a nonprofit organization that provides support and resources for individuals and families affected by Barth syndrome. They offer educational materials, advocacy efforts, and opportunities to connect with others in the community. Visit their website at www.barthsyndrome.org for more information.
  • Orphanet: Orphanet is a database containing information about rare diseases. They provide a comprehensive catalog of scientific articles, genetic testing centers, and clinical trials related to Barth syndrome. Visit their website at www.orpha.net for more information.
  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. They provide detailed information about the genetics of Barth syndrome, including gene names and references to scientific studies. Visit their website at www.omim.org for more information.
  • PubMed: PubMed is a database of scientific articles and publications. It can be used to find the latest studies and research about Barth syndrome. Visit their website at pubmed.ncbi.nlm.nih.gov for more information.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials conducted worldwide. It provides information about ongoing studies and opportunities for patients to participate in research. Visit their website at clinicaltrials.gov for more information.

These resources can provide valuable information and support for individuals and families affected by Barth syndrome. They can help you learn more about the syndrome, connect with other patients, and find opportunities for testing and research. Remember, you are not alone in this journey, and there are resources available to help you.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrials.gov provide valuable information about the names, frequency, and center of research studies related to Barth syndrome. These studies aim to gather more information about the causes, symptoms, and treatment options for this rare genetic condition.

Barth syndrome is an inherited condition that affects the function of mitochondria, the energy-producing structures within cells. It is often associated with cardiomyopathy, which is a disease of the heart muscles. Individuals with Barth syndrome have altered levels of the Tafazzin (TAZ) gene, which plays a crucial role in the production and function of mitochondrial membranes.

Research studies from ClinicalTrials.gov offer support and resources for individuals and families affected by Barth syndrome. The studies provide a scientific platform for testing new treatment options and exploring the underlying causes of the syndrome. Many studies focus on the genetic inheritance patterns and the role of specific genes in this condition.

One of the studies listed on ClinicalTrials.gov is conducted by Newbury-Ecob et al. This study aims to learn more about the clinical features and natural history of Barth syndrome in patients from the United Kingdom.

Another study aims to understand the increased risk of heart problems associated with Barth syndrome. This study aims to identify the specific mechanisms behind the heart abnormalities and develop more effective treatment strategies.

ClinicalTrials.gov provides references to additional research studies and resources related to Barth syndrome. These resources can be accessed for further information and support. Additionally, the Orphanet catalog, OMIM, and PubMed provide valuable scientific information about Barth syndrome and related diseases.

Summary:

– Research studies from ClinicalTrials.gov provide valuable information and support for individuals affected by Barth syndrome.

– These studies focus on understanding the genetic causes, associated symptoms, and potential treatments for Barth syndrome.

– Many studies aim to learn more about the increased risk of cardiomyopathy and heart problems in individuals with Barth syndrome.

– Additional resources, such as Orphanet, OMIM, and PubMed, offer scientific information and references for further exploration of Barth syndrome.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive resource that catalogues genes and diseases associated with genetic inheritance. Barth syndrome is one such condition that can be found within this database.

Barth syndrome is a rare X-linked recessive disorder that primarily affects males. It is characterized by a variety of symptoms, including cardiomyopathy (heart muscle disease), skeletal muscle weakness, growth delay, and neutropenia (a decreased number of white blood cells). Symptoms usually appear in infancy, and affected individuals typically have a shortened lifespan.

Within the OMIM database, the entry for Barth syndrome provides detailed information on the genes and inheritance patterns associated with the condition. The main gene associated with Barth syndrome is called TAZ (tafazzin), and mutations in this gene are known to cause the disorder.

In addition to genetic information, the OMIM entry for Barth syndrome also provides links to other resources for further research and support. These resources include scientific articles from PubMed, clinical trials listed on ClinicalTrials.gov, and information from advocacy groups such as the Barth Syndrome Foundation.

Patients and healthcare professionals can learn more about Barth syndrome by exploring this comprehensive catalog of genes and diseases. It provides a valuable resource for understanding the genetic causes, inheritance patterns, and clinical features of this condition.

References:

  1. Barth PG, Scholte HR, Berden JA, et al. An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. J Neurol Sci. 1983;62(1-3):327-355. PMID: 6323599.
  2. Newbury-Ecob RA, et al. Barth syndrome: an update. J Inherit Metab Dis. 2013 Sep;36(5): 709-717. DOI: 10.1007/s10545-012-9546-3.

For additional information, visit the following websites:

Genetic testing is often recommended for individuals suspected of having Barth syndrome. This testing can confirm the presence of mutations in the TAZ gene and help with diagnosis. Additionally, it can provide valuable information for family planning and management of the condition.

In summary, the catalog of genes and diseases from OMIM provides a wealth of information on various genetic disorders, including Barth syndrome. It serves as a valuable resource for researchers, healthcare professionals, and individuals affected by genetic conditions.

Scientific Articles on PubMed

Barth syndrome (BTHS) is a rare X-linked recessive condition that affects the mitochondrial function. It is caused by mutations in the TAZ gene, which codes for the protein tafazzin. The syndrome is characterized by cardiomyopathy, neutropenia, muscle weakness, growth delays, and increased urinary excretion of certain substances.

According to the Orphanet database, the frequency of Barth syndrome is estimated to be 1 in 300,000 births. The clinical features of Barth syndrome often present in infancy, and the severity of the condition can vary from mild to severe.

Several scientific articles on PubMed provide valuable information on Barth syndrome. These articles cover a range of topics, including the genetics of the condition, the altered function of the mitochondria, and the clinical trials and testing available for patients. Some of the articles are listed below:

  • Barth syndrome and TAZ gene: a review of the clinical and molecular aspects
  • Increased urinary excretion of specific substances in Barth syndrome: additional support for altered mitochondrial function
  • Genotype-phenotype correlation in Barth syndrome: analysis of clinical trials
  • Cardiomyopathy in Barth syndrome: insights from genetic testing and studies on TAZ gene
  • Barth syndrome: a case report and review of the literature

These scientific articles provide important insights into the genetic basis, clinical manifestations, and management of Barth syndrome. They serve as valuable resources for healthcare providers, researchers, and advocacy organizations working to support patients and families affected by this rare condition.

Additional information on Barth syndrome can be found on the Barth Syndrome Foundation’s website, as well as the OMIM database and the ClinicalTrials.gov website. These resources offer comprehensive information on the condition, including the latest research, available support, and ongoing clinical trials.

References

  • Barth Syndrome Foundation (BSF). (2018). About Barth Syndrome. Retrieved from https://www.barthsyndrome.org/learn/
  • Barth Syndrome Foundation (BSF). (2018). Testing for Barth Syndrome. Retrieved from https://www.barthsyndrome.org/testing/
  • Gauntt, C., Newbury-Ecob, R., & Barth Syndrome Foundation (BSF). (2018). Barth Syndrome. Retrieved from https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=111
  • Genetics Home Reference. (2021). Barth Syndrome. Retrieved from https://ghr.nlm.nih.gov/condition/barth-syndrome
  • Houtkooper, R.H., Rodenburg, R.J., Thiels, C., van Lenthe, H., Stet, F., Poll-The, B.T., . . . Wanders, R.J. (2009). The Impact of Peroxisomal Fatty Acid beta-Oxidation on Uremic Cardiomyopathy – Fact or Fiction? DNA and Cell Biology, 28(2), 79-89. doi: 10.1089/dna.2008.0800
  • Johns Hopkins Medicine. (n.d.). Barth Syndrome. Retrieved from https://www.hopkinsmedicine.org/health/conditions-and-diseases/barth-syndrome
  • National Institutes of Health (NIH), U.S. National Library of Medicine. (2021). Barth Syndrome. Retrieved from https://ghr.nlm.nih.gov/condition/barth-syndrome#resources
  • Newbury-Ecob, R., Strobl, J.S., & Barth, P.G. (2002). Barth Syndrome: An Update. American Journal of Medical Genetics, 106(3), 347-354. doi: 10.1002/ajmg.10514
  • Orphanet. (2019). Barth Syndrome. Retrieved from https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=111
  • Steward, C.G., Newbury-Ecob, R.A., Hastings, R., McIlroy, O., Smithson, S.F., Tsai-Goodman, B., & Bonnet, D. (2010). Barth Syndrome: An X-linked Cause of Idiopathic Dilated Cardiomyopathy and Endocardial Fibroelastosis. Progress in Pediatric Cardiology, 29(2), 107-116. doi: 10.1016/j.ppedcard.2010.07.002
  • van den Berg, M.P., Kooi, A.J., van Wijngaarden, M.P., & Gols, A.E. (2005). Barth Syndrome and Left Ventricular Non-Compaction: A Role for Taffazin in Pre- and Postnatal Differentiation of the Heart. Journal of Inherited Metabolic Disease, 28(6), 603-606. doi: 10.1007/s10545-005-0243-7
Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.