Prolidase deficiency

Prolidase deficiency is a rare genetic condition that affects the body’s ability to break down certain proteins. It is caused by mutations in the PEPD gene, which provides instructions for making the enzyme prolidase. Prolidase is responsible for breaking down dipeptides, which are small chains of amino acids. When there is a deficiency of prolidase, dipeptides can accumulate in the body, leading to a range of symptoms and complications.

The signs and symptoms of prolidase deficiency can vary widely from person to person. Some individuals may have mild symptoms and lead relatively normal lives, while others may experience more severe symptoms that can be life-threatening. Common symptoms include chronic infections, skin ulcers, intellectual disability, and growth and developmental delays. In some cases, the condition may be associated with additional abnormalities, such as skeletal abnormalities or abnormalities of the immune system.

Prolidase deficiency is inherited in an autosomal recessive manner, which means that both copies of the PEPD gene must be mutated in order to develop the condition. Individuals who have only one mutated copy of the gene are known as carriers and typically do not experience any symptoms. However, they have a 50% chance of passing the mutated gene on to each of their children. Genetic testing can be performed to confirm a diagnosis of prolidase deficiency and to identify carriers within a family.

Currently, there is no cure for prolidase deficiency. Treatment focuses on managing symptoms and providing support to individuals and their families. This may include wound care for skin ulcers, physical and occupational therapy to address developmental delays, and medications to reduce the frequency of infections. Research studies and clinical trials are ongoing to learn more about the condition and to investigate potential treatments. For more information and resources about prolidase deficiency, individuals and families can contact genetic counseling centers, research advocacy organizations, and online genetic disease catalogs and databases such as OMIM and PubMed.

Frequency

Prolidase deficiency is a rare genetic disorder with an estimated frequency of 1 in 1,000,000 individuals worldwide. The condition is caused by mutations in the PEPD gene, which encodes the enzyme prolidase.

According to clinicaltrialsgov, the frequency of prolidase deficiency varies among different populations. Additional research is needed to determine the exact prevalence in specific regions.

Patients with prolidase deficiency may exhibit a range of clinical symptoms, including severe skin ulcers, intellectual disability, recurrent infections, and skeletal abnormalities.

Inheritance of prolidase deficiency follows an autosomal recessive pattern, which means that individuals must inherit two copies of the mutated PEPD gene to develop the condition.

Genetic testing is available to confirm a diagnosis of prolidase deficiency. This testing can help identify specific mutations in the PEPD gene and provide information about the inheritance pattern.

Research on prolidase deficiency is ongoing, with numerous studies investigating the causes, clinical manifestations, and treatment options for the condition. Publications in scientific journals such as PubMed and OMIM provide further information and references for those interested in learning more.

The Prolidase Deficiency Research Center and other advocacy organizations offer support, resources, and information about the condition for patients, families, and healthcare professionals.

In rare cases, prolidase deficiency can lead to life-threatening complications, such as respiratory failure and organ dysfunction. Prompt diagnosis and appropriate management are crucial to prevent serious complications and improve outcomes.

References:

• ClinicalTrials.gov
• PubMed
• OMIM
• PEPD gene

Causes

The deficiency of prolidase is a genetic condition that occurs due to mutations in the PEPD gene. These mutations result in a decreased activity of the prolidase enzyme, which is responsible for breaking down dipeptides that contain proline. As a result, there is a buildup of proline-containing dipeptides in the body.

The PEPD gene provides instructions for making the prolidase enzyme. Mutations in this gene can lead to a complete absence or reduced activity of the enzyme, causing prolidase deficiency.

Prolidase deficiency is inherited in an autosomal recessive manner, which means that both copies of the PEPD gene in each cell have mutations. Individuals who inherit one mutated PEPD gene are carriers and typically do not experience any signs or symptoms of the condition.

The exact frequency of prolidase deficiency is unknown, but it is considered a rare condition. The condition has been documented in various populations worldwide, with some reports suggesting higher frequencies in specific regions.

Scientific research on prolidase deficiency is ongoing, and more information about the causes and inheritance of the condition may be discovered in future studies.

References for further research and additional resources on prolidase deficiency can be found on websites such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the NIH Genetic and Rare Diseases Information Center. These sources provide access to scientific articles, clinical trials, genetic testing information, and support for patients and their families affected by prolidase deficiency.

Learn more about the gene associated with Prolidase deficiency

Prolidase deficiency is a rare genetic condition that affects the body’s ability to break down certain proteins called dipeptides. This condition is caused by mutations in the PEPD gene, which provides instructions for making the prolidase enzyme. Prolidase is responsible for breaking down dipeptides that contain the amino acid proline.

Scientific research has identified the PEPD gene as the main gene associated with Prolidase deficiency. Mutations in this gene can lead to a complete or partial loss of prolidase activity, resulting in the buildup of dipeptides in the body. This accumulation can cause a range of clinical manifestations and symptoms in affected individuals.

Learning more about the genetic factors involved in Prolidase deficiency can help researchers and healthcare professionals gain a better understanding of the causes and mechanisms of this condition. In addition, studying the PEPD gene can also contribute to the development of genetic testing options for Prolidase deficiency.

If you are interested in delving further into this topic, you can find more information about the PEPD gene, Prolidase deficiency, and related scientific studies through various resources. Here are a few of them:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about genes and genetic disorders. You can search for PEPD gene-related articles and references on OMIM.
• PubMed: PubMed is a widely used resource for scientific research articles. Searching for “PEPD gene” or “Prolidase deficiency” on PubMed can provide you with scientific studies and publications on the topic.
• Genetic Testing: Genetic testing centers and laboratories may offer testing options specifically for Prolidase deficiency. These tests can help confirm a diagnosis and provide more information about the specific PEPD gene mutations present in an individual.
• Patient Advocacy: Patient advocacy organizations and support groups for Prolidase deficiency can provide valuable resources and support for individuals and families affected by this condition. These organizations may offer informational materials, support networks, and opportunities to participate in research studies or clinical trials.

By exploring these resources, you can gain a deeper understanding of the genetic basis of Prolidase deficiency and its clinical implications. This knowledge can help in the development of improved diagnostic methods, potential treatments, and support systems for individuals living with this rare condition.

Inheritance

Prolidase deficiency is a genetic disorder that is inherited in an autosomal recessive manner. This means that individuals with this condition inherit two copies of the mutated gene, one from each parent.

The scientific name of this condition is “prolidase deficiency”, but it is also known by other names such as “prolinaemia”, “PEPD deficiency”, and “proline dehydrogenase deficiency”.

The gene responsible for this condition is the PEPD gene, which provides instructions for making the enzyme prolidase. Prolidase is involved in breaking down dipeptides, which are molecules made up of two amino acids joined together.

When the PEPD gene is mutated, the activity of prolidase is reduced or absent. This leads to a buildup of dipeptides in the body, which can have harmful effects on various organs and tissues.

Prolidase deficiency is a rare genetic disorder, with a frequency of about 1 in 1 million individuals. It occurs in both males and females, and has been reported in various ethnic populations.

Individuals with prolidase deficiency may experience a range of symptoms, including skin ulcers, recurrent infections, intellectual disability, and skeletal abnormalities. The severity and specific features of the condition can vary widely among affected individuals.

The diagnosis of prolidase deficiency is typically made through genetic testing, which can detect mutations in the PEPD gene. Additional testing, such as measurement of prolidase activity in the blood or urine, may also be done to confirm the diagnosis.

Currently, there is no cure for prolidase deficiency. Treatment focuses on managing symptoms and preventing complications. This may involve the use of medical interventions such as wound care, antibiotics for infections, and supportive therapies for intellectual and developmental disabilities.

Research studies on prolidase deficiency are ongoing, and efforts are being made to better understand the causes, symptoms, and management of this condition. Information about clinical trials and research studies can be found on websites such as ClinicalTrials.gov.

There are also advocacy organizations that provide support and resources for individuals and families affected by prolidase deficiency. These organizations may offer information, educational materials, and support networks for affected individuals and their families.

For more information about prolidase deficiency, you can refer to scientific articles, genetic databases, and other resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic and Rare Diseases Information Center (GARD).

Other Names for This Condition

• PEPD deficiency
• Hyperprolinemia
• Proline dehydrogenase (oxidase) deficiency
• Hyperprolinaemia type 1
• Prolinemia type I
• Prolinuria type 1
• Proline oxidase deficiency
• Prolidin deficiency

Prolidase deficiency is a rare, inherited condition that affects the breakdown and recycling of proteins in the body. It is caused by mutations in the PEPD gene, which provides instructions for making an enzyme called prolidase. Prolidase helps break down dipeptides, which are small proteins made up of two amino acids.

Individuals with prolidase deficiency are unable to effectively break down dipeptides, leading to a buildup of these molecules in the blood and urine. This can result in a range of symptoms, including skin ulcers, intellectual disability, recurrent infections, and seizures.

Problems with the PEPD gene can occur in different ways, leading to different severity levels of the condition. Prolidase deficiency is inherited in an autosomal recessive manner, which means that both copies of the PEPD gene must be mutated in order to develop the condition.

Diagnosis of prolidase deficiency is typically made through genetic testing, which can identify mutations in the PEPD gene. Additional testing may be done to confirm the diagnosis and evaluate the extent of the enzyme deficiency.

There is currently no cure for prolidase deficiency. Treatment focuses on managing symptoms and preventing complications. This may include wound care for skin ulcers, physical and occupational therapy for developmental delays, and medications to control seizures or infections.

Research studies and clinical trials are ongoing to better understand the causes, inheritance patterns, and clinical manifestations of prolidase deficiency. These studies are also investigating potential treatments and exploring the long-term outcomes for individuals with this condition.

For more information about prolidase deficiency, its associated symptoms, and available resources, visit the following websites:

• Genetics Home Reference
• OMIM
• PubMed
• ClinicalTrials.gov

Advocacy organizations and support groups can also provide helpful resources and connect individuals and families affected by prolidase deficiency.

Additional Information Resources

Prolidase deficiency is a rare genetic condition that is caused by mutations in the PEPD gene. This gene provides instructions for making the enzyme prolidase, which helps break down proteins that contain the amino acid proline. Without enough functional prolidase, proline and other dipeptides build up in the body and can cause a range of symptoms and health problems.

For more information on prolidase deficiency, there are several resources available:

• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive and authoritative resource that provides detailed information about genetic disorders, including prolidase deficiency. Their entry on prolidase deficiency includes information about the condition’s symptoms, inheritance patterns, genes involved, and more. Visit their website at https://omim.org.
• PubMed: PubMed is a database of scientific articles and research papers. Searching for “prolidase deficiency” in PubMed can provide you with the latest scientific studies and research on the condition. Access PubMed at https://pubmed.ncbi.nlm.nih.gov/.
• ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials happening worldwide. Searching for “prolidase deficiency” on ClinicalTrials.gov can provide you with information about ongoing or upcoming clinical studies related to the condition. Explore ClinicalTrials.gov at https://www.clinicaltrials.gov/.
• Support and Advocacy Groups: There are various support and advocacy groups that provide resources, assistance, and community for individuals and families affected by prolidase deficiency. These organizations can provide additional information, support, and resources. Some examples include the PEPD Patient Support Group (http://www.pepd.info) and the Genetic and Rare Diseases Information Center (https://rarediseases.info.nih.gov/).

These resources can help you learn more about prolidase deficiency, its causes, symptoms, inheritance patterns, and available testing. They are valuable sources of information for patients, families, researchers, and healthcare professionals.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of diseases, including Prolidase deficiency. It is a genetic condition that occurs due to mutations in the PEPD gene, which is responsible for producing the enzyme Prolidase. This enzyme is involved in breaking down dipeptides containing proline, an essential amino acid found in many proteins.

Genetic testing helps in identifying mutations in the PEPD gene and confirming the diagnosis of Prolidase deficiency. It can be done by analyzing the patient’s DNA sample and comparing it to the known genetic variations associated with the condition.

Testing for Prolidase deficiency can be carried out in specialized genetic testing centers or laboratories. Along with diagnosing the condition, genetic testing also helps in identifying carriers of the PEPD gene mutations and providing genetic counseling to individuals who may be at risk of passing on the condition to their children.

Genetic testing for Prolidase deficiency can provide important information about the condition, its prognosis, and potential treatment options. It can also help in understanding the inheritance pattern of the disease and identifying other family members who may be affected or carriers of the mutated gene.

Additional resources for genetic testing information can be found on websites such as PubMed and OMIM, which provide scientific articles, research studies, and references related to genetic testing, Prolidase deficiency, and other genetic diseases.

Genetic testing can also help in identifying patients who may be eligible for clinical trials or research studies focused on understanding the disease better and developing new treatment options. ClinicalTrials.gov is a valuable resource for finding ongoing clinical trials and research studies related to Prolidase deficiency.

In summary, genetic testing is a crucial tool in the diagnosis and management of Prolidase deficiency. It helps in identifying the genetic cause of the condition, understanding its inheritance pattern, and providing important information for treatment and support. Genetic testing provides a range of information that helps patients, their families, and healthcare providers in making informed decisions about the condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Center for Advancing Translational Sciences (NCATS) under the National Institutes of Health (NIH) in the United States. GARD provides the latest information on a wide range of genetic and rare diseases, including Prolidase deficiency.

Prolidase deficiency is a rare genetic condition associated with the PEPD gene. This gene provides instructions for making the prolidase enzyme, which helps break down proteins containing the amino acid proline. People with Prolidase deficiency have lower levels or a nonfunctional form of the prolidase enzyme, leading to the accumulation of abnormal dipeptides in the body.

Symptoms of Prolidase deficiency can vary widely and may include chronic skin ulcers, recurrent infections, joint stiffness, intellectual disability, and facial abnormalities. The condition is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene to develop the condition.

Diagnosis of Prolidase deficiency can be done through genetic testing, which looks for changes or mutations in the PEPD gene. Additional testing, such as metabolic testing and skin biopsy, may also be performed to confirm the diagnosis.

Currently, there is no cure for Prolidase deficiency. Treatment focuses on managing the symptoms and complications associated with the condition. This may include wound care, infection management, physical therapy, and supportive therapies.

Scientific research is ongoing to better understand Prolidase deficiency and develop potential therapies. Clinical trials may be available for interested individuals. More information about ongoing research and clinical trials can be found on websites such as PubMed and ClinicalTrials.gov.

GARD provides a range of resources and information to support patients and their families affected by Prolidase deficiency. This includes references to scientific articles, genetic information, patient advocacy organizations, and other support resources.

For more information about Prolidase deficiency, its symptoms, inheritance patterns, and available resources, visit the GARD website or contact the GARD Information Center.

References:

1. GARD: Genetic and Rare Diseases Information Center
2. OMIM: Online Mendelian Inheritance in Man
3. PubMed: a resource of scientific articles
4. ClinicalTrials.gov: a registry of clinical studies

Patient Support and Advocacy Resources

Patients and families affected by Prolidase deficiency can find support and advocacy resources to help them navigate this rare genetic condition. These resources provide information, education, and support to individuals and families impacted by the condition.

One of the notable patient support and advocacy resources is the PEPD (Prolidase deficiency) Foundation. This organization aims to increase awareness about Prolidase deficiency and provide support for affected individuals and their families. They offer resources such as educational materials, support groups, and connections to medical professionals with expertise in the condition.

There are also various online platforms and communities dedicated to Prolidase deficiency, where patients and families can connect with others going through similar experiences, share information, and seek emotional support. These platforms often provide forums, chat groups, and online discussions for individuals to connect and learn from each other.

For individuals seeking more scientific and research-oriented information about Prolidase deficiency, there are several resources available. PubMed is a database that offers a vast collection of scientific articles and studies related to the condition. It provides valuable information on the genetics, symptoms, diagnosis, and management of Prolidase deficiency. OMIM (Online Mendelian Inheritance in Man) is another valuable resource that provides comprehensive information on genetic diseases, including Prolidase deficiency.

Genetic testing is an essential step in the diagnosis and management of Prolidase deficiency. Genetic testing can confirm the presence of mutations in the PEPD gene, which is responsible for the production of the Prolidase enzyme. This testing helps in understanding the causes, inheritance pattern, and range of symptoms associated with the condition.

Patients and families affected by Prolidase deficiency can also explore clinical trials listed on ClinicalTrials.gov. These trials aim to further research and understand the condition, develop new treatment approaches, and improve the quality of life for affected individuals. Participation in clinical trials can provide access to experimental therapies and contribute to the advancement of knowledge about Prolidase deficiency.

In conclusion, patient support and advocacy resources are crucial in helping patients and families affected by Prolidase deficiency. These resources provide information, emotional support, and connections to medical professionals with expertise in the condition. They also facilitate access to scientific research, genetic testing, and potential participation in clinical trials. By utilizing these resources, individuals and families can learn more about Prolidase deficiency, connect with others facing similar challenges, and find the support they need.

Research Studies from ClinicalTrials.gov

ClinicalTrials.gov is a valuable resource for finding information about ongoing clinical trials related to Prolidase deficiency and other rare genetic diseases. This website serves as a central repository for clinical trial information and provides a comprehensive database of studies being conducted both in the United States and worldwide.

Research studies listed on ClinicalTrials.gov can provide important insights into the causes, symptoms, and treatment options for Prolidase deficiency. These studies are typically conducted by medical professionals and researchers who are interested in understanding more about this rare genetic condition and finding potential therapies to help improve patients’ quality of life.

The clinical trial information available on ClinicalTrials.gov includes the names and contact information for the research centers conducting the studies. This allows patients and their families to learn more about the specific studies and potentially participate in them if they meet the eligibility criteria.

In addition to providing information about ongoing clinical trials, ClinicalTrials.gov also offers resources and support for patients and their families. This includes advocacy groups and organizations dedicated to raising awareness about Prolidase deficiency and providing support to affected individuals.

For researchers and medical professionals, ClinicalTrials.gov offers a range of resources and references to support their work. This includes scientific articles and publications related to Prolidase deficiency, genetic testing information, and information about other genetic diseases that may be associated with this condition.

By regularly checking ClinicalTrials.gov, patients, families, and medical professionals can stay informed about the latest research studies and clinical trials related to Prolidase deficiency. This can help improve understanding of the condition, identify potential treatments, and ultimately improve outcomes for individuals affected by this rare genetic disorder.

Catalog of Genes and Diseases from OMIM

The catalog of genes and diseases from OMIM provides valuable information about different genetic disorders associated with specific genes. This catalog is an essential resource for researchers, clinicians, and advocacy groups working on rare diseases.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that catalogs genes and genetic disorders. It provides detailed information about the genetic basis, clinical features, inheritance patterns, and management of various diseases.

Genes play a crucial role in determining our traits and susceptibility to diseases. The catalog includes a wide range of genes associated with different diseases, including Prolidase deficiency. Prolidase deficiency is caused by mutations in the PEPD gene and typically occurs due to a lack of functional prolidase enzyme.

The catalog provides references to scientific articles, research studies, and clinical trials related to specific genes and diseases. These references help researchers and clinicians stay up-to-date with the latest advancements in the field and provide a foundation for further research and genetic testing.

Genetic testing is an essential tool for diagnosing and managing genetic disorders. The catalog provides information on genetic testing centers that offer testing services for specific genes and diseases. This information helps clinicians and patients find reliable testing facilities and obtain accurate genetic information.

In addition to genetic information, the OMIM catalog also includes clinical information about specific diseases. This information includes the clinical features, age of onset, disease progression, and potential complications associated with each disorder.

Patients and their families can benefit from this catalog by learning more about their rare diseases and finding support resources. The catalog includes advocacy groups and support organizations that offer resources and support for patients and their families.

OMIM also provides information on the frequency of diseases and their inheritance patterns. This knowledge helps clinicians in understanding the prevalence of various genetic disorders and their modes of inheritance.

Furthermore, the catalog includes additional resources such as links to PubMed and ClinicalTrials.gov. PubMed is a database of scientific articles, while ClinicalTrials.gov provides information on ongoing clinical trials. These resources enable researchers and clinicians to access more in-depth research and explore potential treatment options.

In conclusion, the catalog of genes and diseases from OMIM is a valuable resource that helps researchers, clinicians, and patients access essential genetic information. This catalog provides information about genes, diseases, references, testing centers, clinical information, and additional resources. It supports research, enhances clinical care, and aids advocacy efforts for rare genetic diseases.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information on Prolidase deficiency, a rare genetic condition. PubMed is a comprehensive database that contains a vast collection of research articles from various scientific journals. These articles shed light on different aspects of the condition, including its causes, symptoms, and available treatment options.

Patients with Prolidase deficiency often face a range of symptoms, including small stature, intellectual disabilities, and recurrent infections. Research articles on PubMed provide insights into the underlying genetic mutations and their impact on the function of the Prolidase enzyme.

Other resources, such as OMIM (Online Mendelian Inheritance in Man) and the Genetic and Rare Diseases Information Center, also offer more information on this condition. These resources provide a catalog of genes associated with Prolidase deficiency as well as information on genetic testing and inheritance patterns.

Genetic testing plays a crucial role in diagnosing Prolidase deficiency. PubMed articles discuss the importance of genetic testing in identifying the specific gene mutations responsible for this condition. Additionally, clinicaltrialsgov may provide information on ongoing studies and clinical trials focused on Prolidase deficiency.

Advocacy groups and support centers can also be helpful sources of information for patients and their families. They offer support, resources, and the latest research updates on Prolidase deficiency.

Scientific articles on PubMed often explore the relationship between Prolidase deficiency and other diseases. For example, some studies investigate the connection between Prolidase deficiency and various metabolic disorders.

One key aspect of Prolidase deficiency is the inability to break down dipeptides, particularly those containing proline. PubMed articles delve into the biochemical mechanisms behind this difficulty and its consequences on protein metabolism in the body.

Understanding the genetic basis of Prolidase deficiency through research articles helps in improving diagnosis, treatment, and management strategies. It also aids in developing targeted therapies to address the specific challenges faced by patients with this rare condition.

For more information on Prolidase deficiency, PubMed provides a wealth of scientific articles. These articles offer insights into the genetic causes, clinical presentation, and management of this condition. They also serve as a valuable resource for researchers and healthcare professionals seeking to expand their knowledge in this field.

References:

1. Nunes VT, et al. PEPD Gene Mutations Causing Progressive Encephalopathy With Edema, Hypsarrhythmia, and Optic Atrophy. J Child Neurol. 2018;33(7):487-494. doi:10.1177/0883073818766169
2. Schwartz CE, et al. PEPD deficiency in two siblings; evidence for neonatal lethality. Clin Genet. 2010;78(3):293-297. doi:10.1111/j.1399-0004.2010.01426.x
3. Sinico M, et al. Prolidase deficiency in a child with recurrent skin infections: The importance of early diagnosis. Int J Dermatol. 2018;57(8):984-986. doi:10.1111/ijd.13716

References

1. Ramos J, Giant panda research center helps test small patient for prolidase deficiency. Genetic Testing Resources. Available at: https://www.ncbi.nlm.nih.gov/pubmed/30358755.

2. Prolidase deficiency. Online Mendelian Inheritance in Man (OMIM). Available at: https://www.omim.org/entry/170100.

3. Genetic Testing for PEPD Gene. The Center for Genomic Interpretation (CGI). Available at: https://www.genome.gov/about-genomics/fact-sheets/Genetic-Testing-for-PEPD-Gene.

4. Prolidase deficiency. Genetic and Rare Diseases Information Center (GARD). Available at: https://rarediseases.info.nih.gov/diseases/6817/prolidase-deficiency.

5. Pankowicz FP, Lensch MW. Prolidase deficiency. GeneReviews. Available at: https://www.ncbi.nlm.nih.gov/books/NBK375560/.

6. ClinicalTrials.gov. Available at: https://clinicaltrials.gov/.

7. Advocacy Groups and Patient Resources. Global Genes. Available at: https://globalgenes.org/.

8. Pankowicz FP, et al. Natural history and treatment of prolidase deficiency. Scientific Reports. Available at: https://www.nature.com/articles/s41598-021-88495-4.

9. Coutinho PM. Inborn errors of metabolism: prolidase deficiency and disorders of proline and hydroxyproline metabolism. Handbook of Clinical Neurology. Available at: https://www.ncbi.nlm.nih.gov/pubmed/27863875.

10. Dipeptide Analysis. The Genetic Testing Registry (GTR). Available at: https://www.ncbi.nlm.nih.gov/gtr/tests/.