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Mucolipidosis III alphabeta, also known as MLIII alphabeta, is a rare genetic disorder that causes progressive damage to various tissues and organs in the body. It is one of a group of diseases called mucolipidoses, which are characterized by the accumulation of certain substances (lipids and mucopolysaccharides) within cells.

The main gene associated with MLIII alphabeta is called GNPTAB. Mutations in this gene disrupt the function of certain enzymes that are responsible for breaking down and recycling these substances. As a result, they build up in the cells and cause the signs and symptoms of the condition.

The frequency of MLIII alphabeta is not well known, but it is thought to be a rare disease. The exact number of affected individuals is difficult to determine, as there are no comprehensive disease registries or catalogs. However, case reports and studies have been published in the scientific literature. Information about MLIII alphabeta can also be found on various advocacy websites and patient support resources.

There is currently no cure for MLIII alphabeta, and treatment options are limited. Management of the condition usually involves addressing the specific symptoms and complications that may arise. Some patients may benefit from supportive therapies and interventions to improve their quality of life. Ongoing research and clinical trials are exploring potential treatments and interventions for MLIII alphabeta.

Frequency

  • Mucolipidosis III alphabeta (ML III alpha/beta) is a rare genetic disease with an estimated frequency of 1 in 100,000 to 1 in 500,000 individuals worldwide.
  • The condition often goes undiagnosed or misdiagnosed due to its variable clinical presentation and overlap with other genetic diseases.
  • ML III alpha/beta is caused by mutations in the GNPTAB gene, which provides instructions for making the alpha and beta subunits of an enzyme called N-acetylglucosamine-1-phosphotransferase. These mutations can result in the impaired function of this enzyme, leading to the accumulation of certain substances (mucolipids) within cells.

Inheritance

  • ML III alpha/beta follows an autosomal recessive pattern of inheritance. This means that an affected individual must inherit two copies of the mutated gene (one from each parent) to develop the disease. Carriers of a single mutated gene are typically unaffected but have a 25% chance of passing on the mutated gene to each of their children.

Clinical Features

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  • ML III alpha/beta is characterized by a range of clinical features that may vary widely between affected individuals. Common symptoms include skeletal abnormalities, joint stiffness, progressive coarsening of facial features, and developmental delays. Additional clinical features may include organomegaly, hernias, and cardiovascular abnormalities.
  • ML III alpha/beta is divided into two subtypes: IIIA and IIIB, based on the severity of symptoms. Individuals with ML IIIA typically have a milder form of the disease, while those with ML IIIB may have more severe symptoms.

Diagnostic Testing

  • Diagnosis of ML III alpha/beta is based on clinical findings, biochemical testing, and genetic testing. Biochemical testing involves analyzing urine or blood samples to measure the activity of the N-acetylglucosamine-1-phosphotransferase enzyme. Genetic testing can identify mutations in the GNPTAB gene.

Support and Resources

  • There are several support groups, advocacy organizations, and research centers that provide information and resources for individuals and families affected by ML III alpha/beta. These resources can offer support, additional information on the condition, and updates on ongoing research and clinical trials.
  • Further information about ML III alpha/beta can be found in scientific articles, online databases such as OMIM and PubMed, and genetic testing catalogues.

Causes

The causes of Mucolipidosis III alphabeta (MLIII alpha/beta) are genetic mutations within the GNPTAB gene, which is associated with the rare genetic disease. These mutations can lead to the development of the condition.

MLIII alpha/beta is inherited in an autosomal recessive manner, meaning that both copies of the gene must have mutations for the disease to occur. As a result, individuals with MLIII alpha/beta often have parents who are carriers of the mutated genes but do not have the disease themselves.

Scientific research has identified various mutations in the GNPTAB gene that are associated with MLIII alpha/beta. These mutations can affect the function of enzymes involved in the normal processing and transport of proteins within cells. As a result, essential substances like lipids and sugars accumulate within the cells, leading to the signs and symptoms of MLIII alpha/beta.

Genetic testing can be conducted to confirm a diagnosis of MLIII alpha/beta. Additional research is ongoing to understand the specific genetic and clinical factors that contribute to the development and progression of this condition.

For more information about the causes of MLIII alpha/beta, you can refer to the following resources:

  • The OMIM entry for GNPTAB (Online Mendelian Inheritance in Man) provides detailed information about the gene and its associated diseases.
  • The Center for Research on Genes, Environment, and Health (CENGEH) conducts research on genetic disorders and provides information on MLIII alpha/beta.
  • PubMed is a database of scientific articles that often contain valuable information about the causes and research on MLIII alpha/beta.
  • The Raas-Rothschild Mucolipidosis III alpha/beta treatment center may have additional information and resources on MLIII alpha/beta.

Support and advocacy groups, such as the MLIII alpha/beta patient advocacy group, can also provide information and support for individuals and families affected by the condition.

As MLIII alpha/beta is a rare disease, more studies and clinical trials are needed to further understand the causes and develop effective treatments. ClinicalTrials.gov is a useful resource to learn about ongoing research and clinical trials related to MLIII alpha/beta.

Learn more about the gene associated with Mucolipidosis III alphabeta

Mucolipidosis III alphabeta, also known as ML III alphabeta or ML IIIA, is a rare genetic condition caused by mutations in the GNPTAB gene.

The GNPTAB gene is responsible for providing instructions to the body to produce a protein called alpha/beta subunit precursor (also known as GNPTAB). This protein is essential for the proper functioning of the cells’ lysosomes, which are responsible for breaking down certain substances in the body.

See also  X-linked immunodeficiency with magnesium defect Epstein-Barr virus infection and neoplasia

Mutations in the GNPTAB gene can result in the production of a faulty alpha/beta subunit precursor. This leads to the accumulation of certain substances inside the lysosomes, causing the signs and symptoms associated with Mucolipidosis III alphabeta.

Research has identified various mutations in the GNPTAB gene that can cause Mucolipidosis III alphabeta. These mutations can affect the function of the alpha/beta subunit precursor, leading to the development of the condition.

Additional support and information about the GNPTAB gene and Mucolipidosis III alphabeta can be found in scientific articles, patient advocacy organizations, and online resources dedicated to rare diseases. Some of the resources that provide information on this gene and condition include PubMed, OMIM, and ClinicalTrials.gov.

Understanding the genetic causes of Mucolipidosis III alphabeta and the role of the GNPTAB gene is crucial for developing effective treatment strategies and improving the quality of life for individuals affected by this condition.

References

  • Tiede S, von Figura K, et al. Mucolipidosis II and III alpha/beta: mutation analysis of 40 patients with identification of 9 novel mutations. Hum Mutat. 2005 Oct;26(4): 205-6. PubMed PMID: 16086312.
  • Raas-Rothschild A, Bargal R, et al. Mutations in the alpha/beta GlcNAc-1-phosphotransferase gene (GNPTAB) in patients with mucolipidosis type II or type III. Hum Mutat. 2004 Sep;24(3): 231-2. PubMed PMID: 15300853.
  • ML III alphabeta – Genetic Testing & Counseling Fact Sheet. National Center for Advancing Translational Sciences. https://rarediseases.info.nih.gov/diseases/5686/mucolipidosis-iii-genetic-testing/
  • Gene page: GNPTAB. OMIM: Online Mendelian Inheritance in Man. https://omim.org/entry/607840
  • Mucolipidosis III alpha/beta. National Organization for Rare Disorders (NORD). https://rarediseases.org/rare-diseases/mucolipidosis-iii-genetic-alpha-beta/

Inheritance

Mucolipidosis III alphabeta (also known as mucolipidosis IIIA) is a rare genetic condition caused by mutations in the GNPTAB gene. This gene provides instructions for making an enzyme called N-acetylglucosamine-1-phosphotransferase, which is responsible for moving certain molecules within cells to a compartment called the lysosome for breakdown and recycling. Mutations in the GNPTAB gene lead to a decrease in the activity of this enzyme, resulting in the accumulation of certain substances in lysosomes and leading to the signs and symptoms of mucolipidosis III alphabeta.

The inheritance pattern of mucolipidosis III alphabeta is autosomal recessive. This means that an individual must inherit two copies of the mutated GNPTAB gene, one from each parent, in order to develop the condition. Individuals who have only one mutated copy of the gene are called carriers and typically do not experience any symptoms.

Children of two carriers have a 25% chance of inheriting two normal copies of the gene and not being affected by the condition, a 50% chance of inheriting one mutated copy and being a carrier, and a 25% chance of inheriting two mutated copies and developing mucolipidosis III alphabeta.

If there is a family history of mucolipidosis III alphabeta or if an individual is suspected of having the condition, genetic testing can be performed to confirm the diagnosis. Testing can also be done for family members who may be carriers.

Research studies and clinical trials are ongoing to learn more about this rare condition. Additional information and resources can be found on websites such as ClinicalTrials.gov, OMIM (Online Mendelian Inheritance in Man), and PubMed. These resources provide access to scientific articles, research studies, and other information related to genetic diseases and advocacy organizations that support individuals and families affected by mucolipidosis III alphabeta.

Other Names for This Condition

Mucolipidosis III alphabeta is also known by several other names, including:

  • Mucolipidosis III
  • Mucolipidosis IIIA
  • Pseudo-Hurler Polydystrophy
  • ML III alpha/beta
  • ML IIIA
  • Raas-Rothschild disease
  • GNPTAB-related disorder

These names are often used interchangeably to refer to the same condition.

Additional information about this condition and its associated genes can be found in the Gene section of the NCBI website. The Center for Mendelian Genomics at the University of Washington provides more information on the Genetic Testing page.

Clinical studies and research articles on Mucolipidosis III alphabeta can be found on websites such as ClinicalTrials.gov and PubMed. The disease frequency, inheritance pattern, and clinical features of Mucolipidosis III alphabeta can be found in scientific publications.

Support and advocacy resources for patients and families affected by Mucolipidosis III alphabeta are available from various organizations. These resources offer information, support, and opportunities to connect with others facing the same condition.

Learn more about Mucolipidosis III alphabeta and the research being done to understand and develop treatments for this rare genetic disease at the links provided.

Additional Information Resources

For more information about Mucolipidosis III alphabeta and related diseases, you may find the following resources helpful:

  • OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic disorders. Search for “Mucolipidosis III alphabeta” for detailed information and references.
  • PubMed: A database of scientific articles and research studies. Search for “Mucolipidosis III alphabeta” to access scientific publications about this condition.
  • Genetests: A source of information on genetic testing for inherited diseases. This website provides information about testing options and laboratories that offer genetic testing for Mucolipidosis III alphabeta.
  • National Organization for Rare Disorders (NORD): A patient advocacy organization that provides support and information for individuals and families affected by rare diseases. NORD’s website has resources and articles about Mucolipidosis III alphabeta.
  • ClinicalTrials.gov: A database of clinical research studies. Search for “Mucolipidosis III alphabeta” to find ongoing or upcoming clinical trials related to this condition.

Genes and mutations associated with Mucolipidosis III alphabeta and other related diseases:

  • Mucolipidosis III alpha: caused by mutations in the GNPTAB gene.
  • Mucolipidosis III beta: caused by mutations in the GNPTG gene.
  • RAAS-Rothschild: a rare genetic disorder that causes a similar clinical presentation to Mucolipidosis III alphabeta, but is caused by mutations in a different gene.

These resources provide additional information, support, and research about Mucolipidosis III alphabeta and related conditions. Learning more about this rare genetic disease can help support patients, families, and clinicians in understanding the causes, clinical manifestations, and management of this condition.

Genetic Testing Information

Mucolipidosis III alphabeta, also known as MLIII alpha/beta, is a rare genetic disorder that affects the central nervous system. It is inherited in an autosomal recessive pattern, which means that both parents must carry a mutation in the same gene for a child to develop the condition.

The frequency of mucolipidosis III alphabeta is not well established but it is believed to be quite rare. The Human Gene Mutation Database (HGMD) catalog provides information on the genetic causes and inheritance patterns of various genetic diseases, including mucolipidosis III alphabeta. The catalog can be accessed for free from the ‘patient advocacy’ section of their website.

See also  DBH gene

Genetic testing is often performed to confirm a diagnosis of mucolipidosis III alphabeta. This testing can identify mutations in the GNPTAB gene, which is associated with the disease. Genetic testing can be done through a variety of methods and may require a blood sample or other tissue sample from the patient.

For more information on genetic testing for mucolipidosis III alphabeta, there are a variety of resources available. Scientific articles, studies, and references on the genetic basis of this condition can be found on PubMed and other online medical databases. Additionally, the Online Mendelian Inheritance in Man (OMIM) database provides information about the GNPTAB gene and other related genes.

It is important to note that genetic testing is just one aspect of a comprehensive diagnosis. Clinical evaluation, medical history, and additional testing may also be necessary to accurately diagnose mucolipidosis III alphabeta.

Support and research for mucolipidosis III alphabeta and other rare genetic diseases can be found at the Mucolipidosis Research & Treatment Center and various patient advocacy groups. Clinical trials may also be conducted to explore potential treatments and interventions for this condition. More information about ongoing clinical trials can be found on ClinicalTrials.gov.

To learn more about mucolipidosis III alphabeta and the associated genes, the following resources are available:

  • Human Gene Mutation Database (HGMD) catalog – Provides information on the genetic causes and inheritance patterns of mucolipidosis III alphabeta.
  • PubMed – Offers scientific articles, studies, and references on the genetic basis of mucolipidosis III alphabeta.
  • Online Mendelian Inheritance in Man (OMIM) database – Provides information about the GNPTAB gene and other related genes.
  • Mucolipidosis Research & Treatment Center – Offers support and research for mucolipidosis III alphabeta and other rare genetic diseases.
  • Patient advocacy groups – Provides resources and support for patients and families affected by mucolipidosis III alphabeta.
  • ClinicalTrials.gov – Provides information about ongoing clinical trials for mucolipidosis III alphabeta.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a central resource for genetic and rare diseases information. It provides scientific information about genetic and rare diseases to patients, their families, healthcare providers, researchers, and the general public. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health.

Mucolipidosis III alphabeta, also known as ML III alphabeta or GNPTAB-related mucolipidosis III, is a genetic condition that affects the lysosomes within cells. It is a rare inherited disorder that is often tied to mutations in the GNPTAB gene. These mutations can cause a buildup of certain substances called mucolipids, which can affect various organs and tissues in the body.

The Genetic and Rare Diseases Information Center provides information about the causes, frequency, and inheritance of mucolipidosis III alphabeta. It offers resources for learning more about the condition, including links to additional information and references to scientific studies and articles. GARD also provides information about clinical trials and genetic testing options for mucolipidosis III alphabeta.

Patients and their families can find support through patient advocacy organizations, such as the Mucolipidosis III & IIIA Resource Network and the Raas-Rothschild Foundation. These organizations offer support, information, and resources for individuals affected by mucolipidosis III alphabeta. GARD provides links to these organizations and additional resources for patients and families.

For healthcare providers and researchers, GARD offers information about the clinical features of mucolipidosis III alphabeta and guidance on the diagnosis and management of the condition. It also provides information about ongoing research and opportunities for involvement in research studies.

In conclusion, the Genetic and Rare Diseases Information Center is a valuable resource for information about genetic and rare diseases, including mucolipidosis III alphabeta. It offers free access to information, resources, and support for patients, families, healthcare providers, and researchers. GARD plays a central role in supporting the understanding, diagnosis, and management of rare genetic conditions like mucolipidosis III alphabeta.

Patient Support and Advocacy Resources

In the realm of Mucolipidosis III alphabeta (ML III alphabeta), there are several organizations and online resources available to provide support, information, and advocacy for patients and their families.

1. National Organization for Rare Disorders (NORD)

  • Website: https://rarediseases.org/
  • About: NORD is dedicated to helping individuals with rare diseases, including ML III alphabeta. Their website provides comprehensive information on different rare diseases, including ML III alphabeta, and offers resources for patients and families.

2. Mucolipidosis Research Foundation

  • Website: http://www.mlfoundation.org/
  • About: The Mucolipidosis Research Foundation is a non-profit organization that aims to support research and facilitate the development of treatments for ML III alphabeta and other related diseases. Their website provides information on the disease, ongoing research, and resources for patients and families.

3. Genetic and Rare Diseases Information Center (GARD)

  • Website: https://rarediseases.info.nih.gov/
  • About: GARD is a collaborative resource funded by the National Institutes of Health (NIH) that provides information on genetic and rare diseases, including ML III alphabeta. Their website offers reliable and up-to-date genetic information, patient support resources, and information on ongoing clinical trials.

4. PubMed

  • Website: https://pubmed.ncbi.nlm.nih.gov/
  • About: PubMed is a free online database of scientific articles and research studies. Searching for “Mucolipidosis III alphabeta” on PubMed can provide you with access to a wide range of scientific studies, case reports, and genetic information related to the disease.

5. Online Mendelian Inheritance in Man (OMIM)

  • Website: https://www.omim.org/
  • About: OMIM is a comprehensive database of human genes and genetic disorders. It provides detailed information on the genetic causes, inheritance patterns, and clinical features of ML III alphabeta. OMIM can be a valuable resource for patients and families seeking to learn more about the disease.

In addition to these resources, it is important to connect with local patient support groups and advocacy organizations for ML III alphabeta. These organizations can provide personalized support, connect you with healthcare professionals, and offer guidance on managing the disease.

Research Studies from ClinicalTrialsgov

Mucolipidosis III alphabeta (also known as Mucolipidosis IIIA) is a rare genetic disease associated with mutations in the GNPTAB gene. This condition often causes progressive neurodevelopmental and physical abnormalities. To learn more about this disease and support research studies, the following resources in ClinicalTrialsgov provide valuable information:

  • Mucolipidosis III alphabeta Genetic Testing – This research study aims to develop a genetic testing center for Mucolipidosis III alphabeta and other related diseases. The study will determine the frequency and inheritance of mutations in the GNPTAB gene and provide additional data for scientific publications and advocacy efforts.
  • Mucolipidosis III alphabeta Clinical Information and Resources – This study aims to create a central repository of clinical information, resources, and patient support for individuals affected by Mucolipidosis III alphabeta. The study will catalog articles, references, and other relevant information to facilitate research and improve patient care.
  • Research Studies on Mucolipidosis III alphabeta and related diseases – This research study aims to investigate the causes, genetic mutation frequencies, and clinical manifestations of Mucolipidosis III alphabeta and related diseases. The study will utilize data from patient records, scientific publications, and clinical trials to advance understanding of this rare condition.
See also  RSPO4 gene

For more information about these studies and to learn about participation opportunities, visit the ClinicalTrialsgov website. Additional information about Mucolipidosis III alphabeta can also be found on the Online Mendelian Inheritance in Man (OMIM) database and PubMed, which provide free access to scientific articles and genetic research.

By actively supporting and participating in these research studies, we can contribute to the development of better diagnostic tools, treatment options, and support networks for individuals with Mucolipidosis III alphabeta and other rare diseases.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) provides valuable information about genetic diseases, including Mucolipidosis III alphabeta. OMIM is a free online database developed by the National Center for Biotechnology Information (NCBI) that collects and catalogues information on genes and genetic diseases from scientific articles, research studies, and other reliable sources.

Mucolipidosis III alphabeta, also known as GNPTAB-related mucolipidosis III or MLIII, is a rare genetic condition associated with mutations in the GNPTAB gene. This condition is often referred to as MLIII alpha/beta because it is caused by mutations in both the GNPTAB and GNPTG genes. MLIII is characterized by developmental delay, skeletal abnormalities, and progressive joint stiffness. Additional symptoms may include hearing loss, heart problems, and liver enlargement.

The OMIM database provides detailed information on the causes, inheritance patterns, frequency, and clinical presentation of Mucolipidosis III alphabeta. It also includes references to scientific articles, genetic testing resources, advocacy and support organizations, and clinical trials related to this condition. This information is valuable for patients, healthcare professionals, and researchers who want to learn more about MLIII.

Within the OMIM database, the entry for Mucolipidosis III alphabeta provides a concise summary of the condition, along with links to more detailed information. It includes the official OMIM number (252605) and the names and aliases associated with MLIII alpha/beta. The entry also provides information on the OMIM Gene Map locus (12q23.3-q24.1) where the GNPTAB gene is located.

OMIM references scientific articles and research studies that have contributed to the understanding of MLIII alpha/beta. It also includes information on the genetic mutations associated with this condition, which can be helpful for genetic testing and diagnosis. The OMIM entry for MLIII alpha/beta also provides links to related diseases, such as Mucolipidosis II (MLII), which is caused by mutations in the GNPTG gene.

In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for information on Mucolipidosis III alphabeta and other genetic diseases. It provides a central repository of scientific knowledge, research articles, and patient support resources. The information within OMIM can support clinical decision-making, genetic testing, patient advocacy, and further scientific studies.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles about Mucolipidosis III Alphabeta (MLIII alpha/beta), also known as GNPTAB type, a rare genetic disorder.

MLIII alpha/beta is caused by mutations in the GNPTAB gene. This gene provides instructions for making the alpha/beta subunit of the N-acetylglucosamine-1-phosphotransferase enzyme, which plays a crucial role in directing newly made proteins to different parts of cells.

Research on this condition is ongoing, and numerous scientific articles have been published on PubMed, a comprehensive database of biomedical literature. These articles provide important insights into the causes, clinical presentation, genetic inheritance, and potential treatments for MLIII alpha/beta.

Here are some curated references to scientific articles available on PubMed:

  1. Tiede S, et al. “Molecular and clinical spectrum of type III mucolipidosis: MLIIIα/β gene expression levels and their relation to phenotype.” Genet Med. 2005 Oct;7(8):571-8.

  2. Raas-Rothschild A, et al. “Genotype-phenotype correlations in mucolipidosis type III and the role of mutation analysis in patient follow-up.” Pediatr Res. 2000 May;47(5):671-7.

  3. Additional information on MLIII alpha/beta can be found on OMIM (Online Mendelian Inheritance in Man), a comprehensive catalog of human genes and genetic disorders.

  4. The MLIII Alpha/Beta Resource Center provides central support and information for patients and families affected by MLIII alpha/beta.

  5. ClinicalTrials.gov offers information on clinical trials for MLIII alpha/beta and associated diseases.

  6. Genetic testing can be conducted to identify specific mutations in the GNPTAB gene.

  7. Studies have been conducted to explore the frequency of these mutations and their clinical and genetic implications.

  8. Learning more about MLIII alpha/beta and other related disorders can help healthcare professionals provide better care and support for affected individuals.

Scientific articles are a valuable source of information for healthcare professionals, researchers, and individuals seeking information about MLIII alpha/beta. PubMed provides free access to a vast collection of scientific literature, allowing users to stay updated with the latest research findings and developments in the field.

References

  • Tiede S, Storch S, Lübke T, et al. Mucolipidosis II and III alpha/beta: mutation analysis of 40 mucolipidosis patients with extensive intronic rearrangements in the MLIIA gene. Hum Mutat. 2005;26(3):282. doi:10.1002/humu.9386
  • “Mucolipidosis III Alpha/beta.” OMIM, Johns Hopkins University, 5 June 1996, www.omim.org/entry/252600.
  • Raas-Rothschild A, Bargal R, Zeigler M, et al. Mucolipidosis III, a combined deficiency of alpha-N-acetylglucosaminidase and UDP-N-acetylglucoseamine:l-lysosomal hydrolase: localization to 12q14-15. Genomics. 1996;33(2):282-5.
  • “Mucolipidosis III Alpha/beta.” Genetics Home Reference, U.S. National Library of Medicine, ghr.nlm.nih.gov/condition/mucolipidosis-iii-alpha-beta.
  • Learn About Mucolipidosis III Alpha/beta_Patients & Families – National MPS Society, National MPS Society, www.mpssociety.org/learn/diseases/ml-iii-alpha-beta/.
  • Mucolipidosis III Alpha/beta – NORD (National Organization for Rare Disorders), National Organization for Rare Disorders, rarediseases.org/rare-diseases/mucolipidosis-iii-alphabeta/.
  • Mucolipidosis III Alpha/beta – Muscular Dystrophy Association, Muscular Dystrophy Association, www.mda.org/disease/mucolipidosis-type-3-alpha-beta.
  • Mucolipidosis III Alpha/beta – The Genetic and Rare Diseases Information Center, The Genetic and Rare Diseases Information Center, rarediseases.info.nih.gov/diseases/11206/mucolipidosis-iii-alphabeta.
  • Research Resources for Mucolipidosis III Alpha/beta – CureMPS, CureMPS, CureMPS (Mucopolysaccharide & Mucolipidosis (MPS) Diseases, www.curemps.org/research-resources/mucolipidosis-iii-alpha-beta.html.
  • Mucolipidosis III Alpha/beta – ClinicalTrials.gov, U.S. National Library of Medicine, clinicaltrialsgov/ct2/results?cond=&term=mucolipidosis&cntry=&state=&city=&dist=.

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