Mucopolysaccharidosis type IV, also known as Morquio syndrome, is a rare genetic disorder that is characterized by the inability to break down certain mucopolysaccharides, causing an accumulation of these substances in the body. This condition affects multiple systems in the body, including the skeletal system, cardiovascular system, and respiratory system.
Mucopolysaccharidosis type IV is caused by mutations in the GALNS gene or the GLB1 gene, which are responsible for producing enzymes that break down mucopolysaccharides. The inheritance of this condition is autosomal recessive, meaning that both parents must carry a mutated copy of the gene in order for their child to be affected.
The signs and symptoms of mucopolysaccharidosis type IV can vary widely, but common features include short stature, skeletal abnormalities (such as curved spine and enlarged joints), and abnormal facial features (such as a large head and a prominent forehead). Individuals with this condition may also experience frequent respiratory infections and cardiovascular problems.
Diagnosis of mucopolysaccharidosis type IV is typically made based on clinical symptoms, genetic testing, and imaging studies. Additional testing may be done to rule out other types of mucopolysaccharidosis or genetic diseases that cause similar symptoms.
There is currently no cure for mucopolysaccharidosis type IV, but supportive care and treatment can help manage the symptoms and improve quality of life for patients. Research studies and clinical trials are ongoing to learn more about this condition and to develop new treatments.
For more information on mucopolysaccharidosis type IV, genetic inheritance, and available resources, the National Institutes of Health’s Genetic and Rare Diseases Information Center, OMIM, PubMed, and other scientific articles are valuable sources of information. Advocacy organizations such as the Mucopolysaccharidosis Society and support groups can also provide additional resources and support for individuals and families affected by this condition.
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Frequency
Mucopolysaccharidosis type IV (MPS IV) is a rare genetic condition with a heterogeneous frequency. It is estimated that MPS IV affects approximately 1 in 200,000 to 300,000 individuals worldwide.
Research studies have shown that MPS IV has different frequencies in different populations. For example, in certain populations, such as the Ashkenazi Jewish population, the frequency of MPS IV might be higher compared to the general population. This information is based on clinical studies and genetic testing.
The frequency of MPS IV is caused by mutations in the GLB1 and GALNS genes. Mutations in these genes result in the production of abnormal enzymes that are responsible for breaking down certain types of molecules in the body called mucopolysaccharides.
Scientific research and clinical studies have provided additional information about the frequency of MPS IV and its associated genetic abnormalities. These studies have helped to identify the different types of MPS IV and the specific genes involved in each type. The frequency of the different types of MPS IV varies, with some types being rarer than others.
Patient registries and advocacy organizations provide valuable resources for those affected by MPS IV and their families. These organizations support research, provide information about the condition, and offer support to individuals and families affected by MPS IV. These resources can be helpful in learning more about MPS IV, finding clinical trials, and connecting with other individuals and families affected by the condition.
Sources of information on MPS IV and related diseases include online databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed, as well as scientific articles and clinical trials registered on ClinicalTrials.gov. These resources provide a wealth of information on the causes, frequency, and clinical characteristics of MPS IV.
In summary, mucopolysaccharidosis type IV is a rare genetic condition with a heterogeneous frequency. The frequency of MPS IV varies depending on the population and the specific type of MPS IV. Research studies, genetic testing, and patient registries provide valuable information and resources for individuals and families affected by MPS IV.
Causes
Mucopolysaccharidosis type IV (MPS IV), also known as Morquio Syndrome, is a genetic disorder that is caused by mutations in the GALNS and GLB1 genes. These genes provide instructions for producing enzymes that are involved in the breakdown of certain molecules called glycosaminoglycans (GAGs). In MPS IV, there is a deficiency or absence of these enzymes, leading to the buildup of GAGs in the body.
MPS IV is inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations. When both parents carry one copy of the mutated gene, there is a 25% chance with each pregnancy that the child will inherit both copies of the mutated gene and be affected by MPS IV.
The exact frequency of MPS IV is not known, but it is estimated to occur in about 1 in 200,000 to 1 in 300,000 live births. It is considered a rare disease.
In addition to genetic causes, MPS IV can also occur as a result of spontaneous mutations in the genes involved. This means that the condition can occur in individuals with no family history of the disease.
Other names for Mucopolysaccharidosis type IV include Morquio A syndrome, Morquio’s disease, and MPS IVA.
Genetic testing can be done to confirm the diagnosis of MPS IV. This involves analyzing the DNA of the patient to look for mutations in the GALNS and GLB1 genes. Testing may also be done to assess the levels of the enzymes produced by these genes.
For more information about this condition, visit the resources provided by the National Center for Advancing Translational Sciences (NCATS) and the Office of Rare Diseases Research (ORDR) at the National Institutes of Health (NIH). Additional research articles and scientific references can be found on websites such as OMIM (Online Mendelian Inheritance in Man) and PubMed.
Clinical trials for the treatment of MPS IV may also be available. More information about ongoing trials can be found on the clinicaltrials.gov website.
Learn more about the genes associated with Mucopolysaccharidosis type IV
Mucopolysaccharidosis type IV, also known as Morquio syndrome, is a rare genetic condition that affects the body’s ability to break down complex sugars called glycosaminoglycans (GAGs). There are two types of Mucopolysaccharidosis type IV: type A and type B, which are caused by mutations in the GALNS and GLB1 genes, respectively.
The GALNS gene provides instructions for making an enzyme called N-acetylgalactosamine-6-sulfatase, which is involved in the breakdown of GAGs in the body. Mutations in this gene result in a deficiency or absence of the enzyme, leading to the accumulation of GAGs in various tissues and organs. This build-up can cause a range of symptoms, including skeletal abnormalities, respiratory issues, and heart problems.
The GLB1 gene, on the other hand, provides instructions for making an enzyme called beta-galactosidase, which is also involved in the breakdown of GAGs. Mutations in this gene result in a deficiency or absence of the enzyme, leading to the accumulation of GAGs and similar symptoms as Mucopolysaccharidosis type IV type A.
Genetic testing can be used to identify mutations in the GALNS or GLB1 genes and confirm a diagnosis of Mucopolysaccharidosis type IV. This testing can also help determine the specific mutation present, which may have implications for prognosis and treatment options.
If you or a loved one has been diagnosed with Mucopolysaccharidosis type IV, it is important to seek support and additional information. There are a number of organizations and resources available that can provide assistance, including genetic advocacy groups, research centers, and patient support organizations. These resources can offer information on the latest scientific studies, clinical trials, and treatment options.
Some useful resources for learning more about Mucopolysaccharidosis type IV and the genes associated with this condition include:
- The National Center for Biotechnology Information’s Genetic Testing Registry (https://www.ncbi.nlm.nih.gov/gtr/) provides a catalog of genetic tests for Mucopolysaccharidosis type IV and other related conditions.
- The Online Mendelian Inheritance in Man database (https://omim.org/) offers information on the genetic basis of Mucopolysaccharidosis type IV and other inherited diseases.
- The ClinicalTrials.gov database (https://clinicaltrials.gov/) provides information on ongoing clinical trials for Mucopolysaccharidosis type IV and related conditions.
- PubMed (https://pubmed.ncbi.nlm.nih.gov/) is a database of scientific research articles that can provide more in-depth information on the genetics, pathophysiology, and management of Mucopolysaccharidosis type IV.
By learning more about the genes associated with Mucopolysaccharidosis type IV and staying informed about the latest research and treatment options, individuals and families affected by this condition can better advocate for their own care and support ongoing efforts to improve diagnosis and treatment.
Inheritance
Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is a rare genetic disorder caused by mutations in the GALNS or GLB1 genes. MPS IV is inherited in an autosomal recessive manner, meaning that an affected individual must inherit two abnormal genes, one from each parent, to develop the condition.
MPS IV is divided into two types: MPS IV-A and MPS IV-B, which are caused by mutations in the GALNS and GLB1 genes, respectively. The frequency of MPS IV is estimated to be about 1 in 200,000 to 300,000 births.
Individuals with MPS IV may experience a wide range of symptoms and clinical abnormalities, including skeletal deformities, short stature, joint abnormalities, and abnormalities in the heart, eyes, and ears. The severity of these symptoms can vary widely among affected individuals.
Genetic testing is available to confirm a diagnosis of MPS IV. This testing can detect mutations in the GALNS or GLB1 genes and can help differentiate between MPS IV-A and MPS IV-B. In addition to genetic testing, other diagnostic tools such as enzyme activity testing and urine analysis may be used to support a diagnosis of MPS IV.
There is currently no cure for MPS IV, but there are treatment options available to manage symptoms and improve quality of life. These may include enzyme replacement therapy, physical therapy, surgery, and supportive care for associated symptoms and complications.
Research on MPS IV and other rare diseases is ongoing, and there are resources available to support patients, families, and healthcare professionals in learning more about this condition. These include scientific articles, advocacy organizations, clinical trials databases, and references such as OMIM and PubMed.
For more information on MPS IV and other genetic diseases, visit the website of the National MPS Society, a leading advocacy organization for individuals and families affected by MPS IV and related disorders. They provide a wealth of information and resources on MPS IV, including articles, patient stories, and support groups.
Other Names for This Condition
Mucopolysaccharidosis type IV is also known by other names, including:
- Morquio syndrome type A
- Gangliosidosis, GM1 type II and III
- Glycosaminoglycans, acidic, inborn errors of metabolism
- Morquio syndrome, type A
- Gangliosidosis, generalized GM1, type II
These names reflect the various clinical and genetic characteristics of the condition. Researchers and scientists use different names as they study and learn more about Mucopolysaccharidosis type IV.
Additional resources and information about this condition can be found from various sources, including scientific articles, clinical trials, advocacy groups, and genetic testing providers. Some helpful references include:
- ClinicalTrials.gov: A database of clinical trials that provides information on studies related to Mucopolysaccharidosis type IV and other rare genetic diseases.
- OMIM: The Online Mendelian Inheritance in Man catalog, a comprehensive source of information on genetic conditions and associated genes.
- PubMed: A database of scientific articles and research studies that can provide more in-depth information on Mucopolysaccharidosis type IV and related topics.
- GALNS Gene Testing: Genetic testing providers that offer testing for the GLB1 gene mutations associated with Mucopolysaccharidosis type IV.
- Morquios Learn: An advocacy group that provides support and resources for patients and families affected by Mucopolysaccharidosis type IV.
By exploring these resources, individuals can gain a better understanding of the condition, its causes, and available support and treatment options.
Additional Information Resources
- Genetic and Inheritance: To learn more about the genes associated with Mucopolysaccharidosis type IV (MPS IV), their frequency, and inheritance pattern, visit the Genetic and Rare Diseases Center (GARD) website.
- Clinical Trials: ClinicalTrials.gov provides information on ongoing research studies, patient testing, and new treatments for MPS IV.
- Scientific Articles and Publications: PubMed is a database of scientific articles and publications that offer more information about the genetics, causes, and associated conditions of MPS IV.
- Patient Support and Advocacy: Get support from advocacy organizations like the National MPS Society, who provide resources and services for families affected by MPS IV.
- Additional Diseases and Associated Genes: The Online Mendelian Inheritance in Man (OMIM) catalog lists other rare diseases associated with abnormal genes, such as GM1-gangliosidosis and Morquio syndrome.
- References: Find more references and sources of information on MPS IV and related topics.
Genetic Testing Information
Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is a rare genetic disorder caused by mutations in the GALNS gene. It belongs to a group of diseases called mucopolysaccharidoses, which are characterized by the deficiency or absence of specific enzymes required to break down complex sugars.
Genetic studies have shown that there are two forms of MPS IV: MPS IV A and MPS IV B. MPS IV A is caused by mutations in the GALNS gene, while MPS IV B is caused by mutations in the GLB1 gene.
Genetic testing can be used to diagnose MPS IV and determine the specific gene mutation responsible for the condition. This information is important for understanding the clinical presentation of the disease, predicting disease progression, and providing appropriate treatment and support.
Genetic testing for MPS IV can be done through various methods, including DNA sequencing, gene panels, and deletion/duplication analysis. It is typically performed on a blood or saliva sample collected from the patient.
Advocacy and support organizations, such as the National MPS Society, provide resources and information for individuals and families affected by MPS IV. These organizations offer support groups, educational materials, and connections to clinical trials and research studies.
Patients with MPS IV and their families can also find additional information about the condition through scientific articles, research papers, and clinical trials listed on websites such as PubMed, OMIM, and ClinicalTrials.gov.
It is important to note that MPS IV is a rare genetic condition, and genetic testing may not always be readily available or covered by insurance. However, efforts are being made to increase awareness and accessibility of genetic testing for rare diseases, including MPS IV.
By identifying the specific genetic mutations associated with MPS IV, researchers and clinicians can gain a better understanding of the underlying cause of the disease and develop targeted therapies.
References:
- Tomatsu S. et al. Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment. Curr. Pharm. Biotechnol. 2011; 12(6):931-945.
- OMIM. Morquio Syndrome. Accessed on February 1, 2022. Available at: https://omim.org/entry/253000
- National MPS Society. Mucopolysaccharidoses IV (MPS IV). Accessed on February 1, 2022. Available at: https://mpssociety.org/mps/morquio-syndrome/
Genetic and Rare Diseases Information Center
Mucopolysaccharidosis type IV (MPS IV), also known as Morquio Syndrome, is a rare genetic condition associated with abnormalities in the joints, bones, and other organs. It is caused by mutations in the GALNS or GLB1 genes. The condition is inherited in an autosomal recessive manner, and its frequency varies among different populations.
Patients with MPS IV may experience a range of symptoms, including skeletal abnormalities, such as short stature and bone deformities, as well as heart and lung problems, hearing and vision impairments, and recurrent infections. The severity and specific symptoms of MPS IV can vary widely from patient to patient.
Genetic testing can diagnose MPS IV by identifying mutations in the GALNS or GLB1 genes. Additional diagnostic tests, such as biochemical testing, can also be used to confirm the diagnosis.
There are two types of MPS IV: MPS IV-A and MPS IV-B. MPS IV-A is caused by mutations in the GALNS gene, while MPS IV-B is caused by mutations in the GLB1 gene. These mutations result in the buildup of specific substances called glycosaminoglycans (GAGs) in the body, leading to the characteristic symptoms of the condition.
Research on MPS IV is ongoing, and there are currently no known cures for the condition. However, there are treatments available to manage the symptoms and improve the quality of life for patients with MPS IV. These treatments may include enzyme replacement therapy, supportive care, and surgical interventions.
The Genetic and Rare Diseases Information Center (GARD) provides additional information and resources on MPS IV and other rare genetic diseases. GARD offers a comprehensive database with information on the symptoms, causes, inheritance patterns, and associated genes for rare diseases. The center also offers support and advocacy resources for patients and their families.
For more information on MPS IV and other rare genetic diseases, visit the GARD website or consult the following references:
- Tomatsu S, et al. Mucopolysaccharidoses Update: Clinical Features, Epidemiology, and Treatment. In: Adam MP, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2020.
- Morquio Syndrome Fact Sheet. National MPS Society. Available at: [INSERT LINK].
- Morquio A Syndrome. National Organization for Rare Disorders (NORD). Available at: [INSERT LINK].
For additional research articles and clinical studies on MPS IV, visit PubMed or clinicaltrials.gov.
| – Genetic and Rare Diseases Information Center (GARD): | rarediseases.info.nih.gov |
| – National MPS Society: | mpssociety.org |
| – National Organization for Rare Disorders (NORD): | rarediseases.org |
Patient Support and Advocacy Resources
Patients and families affected by Mucopolysaccharidosis type IV (also known as Morquio Syndrome) can benefit from various support and advocacy resources. These resources provide information, support, and guidance to individuals living with the condition and their families.
Here are some valuable patient support and advocacy resources:
- National MPS Society: The National MPS Society is dedicated to supporting individuals and families affected by mucopolysaccharidosis (MPS) and related diseases. They provide resources, support, and advocacy for patients and families, along with funding research for treatments and a potential cure.
- Genetic and Rare Diseases Information Center (GARD): GARD offers information and resources on various genetic diseases, including Mucopolysaccharidosis type IV. They provide detailed information about the condition, its symptoms, causes, and inheritance pattern. GARD also offers information on genetic testing and resources for finding clinical trials related to the condition.
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on genetic disorders, including Mucopolysaccharidosis type IV. Patients and families can find detailed scientific information about the genetic causes, associated abnormalities, and frequency of the condition.
- PubMed: PubMed is a database containing scientific articles and research papers. Patients and families can use this resource to find studies and research related to Mucopolysaccharidosis type IV. It offers a wealth of information on the condition, its diagnosis, management, and potential treatments.
- United MSD Foundation: The United MSD Foundation focuses on improving the lives of individuals affected by Mucopolysaccharidosis type IV and related conditions. They provide support, resources, and advocacy for patients and families, along with funding research efforts to better understand and treat the condition.
These resources can provide patients and families with additional information, support, and guidance regarding Mucopolysaccharidosis type IV. They can help individuals navigate the challenges that come with the condition and connect with a community of support.
It’s important for patients and families to stay informed and empowered when dealing with a rare genetic condition like Mucopolysaccharidosis type IV. These resources can help them learn more about the condition, find clinical trials and research opportunities, and connect with others who understand their journey.
Research Studies from ClinicalTrialsgov
Research studies on mucopolysaccharidosis type IV, also known as Morquio syndrome, and other genetic diseases are available on ClinicalTrials.gov. ClinicalTrials.gov is a database that provides information about clinical research, including studies on rare diseases.
These studies aim to gather additional information about the condition, its causes, and potential treatments. They also provide support for patients and their families, as well as resources for healthcare professionals and advocacy groups.
Some research studies focus specifically on mucopolysaccharidosis type IV, while others include various genetic diseases such as GM1-Gangliosidosis. These studies often involve clinical trials, scientific investigations, and the collection of data from patient registries.
Information about mucopolysaccharidosis type IV and other rare diseases can also be found on other scientific databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide access to articles, references, and genetic testing information.
Common symptoms and abnormalities associated with mucopolysaccharidosis type IV include skeletal deformities, joint stiffness, and impaired growth. The condition is caused by mutations in the GALNS gene. Testing for these genetic abnormalities can be done through specialized laboratories.
Research studies from ClinicalTrials.gov and other sources contribute to the understanding of mucopolysaccharidosis type IV and other rare genetic diseases. They provide valuable information to help improve diagnosis, treatment, and support for patients and their families.
Catalog of Genes and Diseases from OMIM
About:
Mucopolysaccharidosis type IV (MPS IV) is a rare genetic condition characterized by the deficiency of the enzyme galactosamine-6-sulfatase (GALNS). Also known as Morquio syndrome, this condition affects the body’s ability to break down certain sugar molecules called mucopolysaccharides. MPS IV is inherited in an autosomal recessive pattern, meaning that both copies of the GALNS gene must be mutated for the condition to manifest.
Syndrome:
Morquio syndrome has two types: MPS IV type A and MPS IV type B. Type A is more severe, with symptoms that usually appear in early childhood. Type B is milder, with symptoms typically presenting in adolescence or adulthood. The most common symptoms include skeletal abnormalities, such as abnormal growth and development of the bones, resulting in short stature and various orthopedic problems. Other symptoms may include hearing loss, vision problems, heart valve abnormalities, and respiratory difficulties.
Cause:
MPS IV is caused by mutations in the GALNS gene, which provides instructions for making the galactosamine-6-sulfatase enzyme. This enzyme is responsible for breaking down specific mucopolysaccharides called keratan sulfate and chondroitin-6-sulfate. The lack of functional GALNS enzyme leads to the buildup of these mucopolysaccharides in various tissues and organs, causing the signs and symptoms of MPS IV.
Genes:
The main gene associated with MPS IV is GALNS. Mutations in this gene can result in the deficiency of the GALNS enzyme and the subsequent development of MPS IV. Additional genes may also be involved in certain cases of MPS IV, but more research is needed to fully understand their role in the condition.
Associated Information and Resources:
- The OMIM (Online Mendelian Inheritance in Man) database provides detailed information on genes and genetic disorders, including MPS IV.
- The National Center for Biotechnology Information (NCBI) website offers resources for genetic testing, scientific articles, and additional studies related to MPS IV.
- ClinicalTrials.gov lists ongoing clinical trials for MPS IV and other related conditions.
- Support organizations, such as the National MPS Society, offer advocacy, resources, and support for individuals and families affected by MPS IV.
References:
- Morquio A Syndrome. (n.d.). OMIM.
- Tomatsu, S., et al. (2009). Mucopolysaccharidoses Update. Journal of Inherited Metabolic Disease, 32(3), 435-449.
- MPS IV (Morquio Syndrome). (n.d.). National MPS Society.
- GALNS Galactosamine-6-Sulfatase [Homo sapiens (human)] – Gene – NCBI. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gene/2585
- OMIM – Online Mendelian Inheritance in Man. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/omim
- Gm1-Gangliosidosis. (n.d.). OMIM.
Scientific Articles on PubMed
PubMed is a valuable resource for finding scientific articles related to Mucopolysaccharidosis type IV and other rare genetic diseases. It provides a vast collection of research publications that can help health professionals, researchers, and patients stay up-to-date with the latest information on the topic.
PubMed offers articles on various aspects of Mucopolysaccharidosis type IV, including its causes, symptoms, inheritance patterns, clinical trials, and treatment options. Researchers and clinicians can explore the genetic abnormalities associated with the condition and the frequency of its occurrence in different populations.
Studies published on PubMed also shed light on the underlying genetic mutations that cause Mucopolysaccharidosis type IV. They explore the role of different genes, such as GALNS and GLB1, in the development of the disease. This information can help researchers understand the condition better and develop targeted therapies.
PubMed provides information on clinical trials related to Mucopolysaccharidosis type IV and other related diseases. Researchers can find references to ongoing or completed trials to learn about the experimental treatments and potential outcomes. This information can guide the development of new treatment options and support patient advocacy efforts.
In addition to scientific articles, PubMed also offers resources such as the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM provides in-depth information on genetic disorders, including Mucopolysaccharidosis type IV. It includes detailed descriptions of the condition, associated genes, and clinical features.
Overall, PubMed is a valuable tool for anyone interested in learning about Mucopolysaccharidosis type IV and other rare genetic diseases. With its extensive collection of scientific articles, clinical trial information, and resources like OMIM, PubMed provides a comprehensive platform for researchers, healthcare professionals, and patients to access up-to-date information on the topic.
References
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Tomatsu, S., Montaño, A. M., Oikawa, H., Smith, M., Barrera, L., Chinen, Y., … & Orii, T. (2010). Mucopolysaccharidosis type IV A (Morquio A disease): clinical review and current treatment.
Bioscience trends, 4(6), 297-307.
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Tomatsu, S., Montaño, A. M., Dung, V. C., Oikawa, H., de Carvalho, T. G., Gutiérrez, M. L., … & Orii, T. (2011). Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment.
Bioscience trends, 5(1), 1-9.
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Cordoba-Lanus, E., & Cantrolesi, G. E. (2020). Morquio Syndrome.
StatPearls Publishing.
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National Center for Advancing Translational Sciences. (n.d.). Galns gene. Retrieved from
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National Center for Advancing Translational Sciences. (n.d.). GLB1 gene. Retrieved from
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ClinicalTrials.gov. (n.d.). Learn about clinical trials for mucopolysaccharidosis. Retrieved from
https://clinicaltrials.gov/ct2/results?cond=mucopolysaccharidosis
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Online Mendelian Inheritance in Man. (n.d.). Galactosamine-6-sulfatase deficiency. Retrieved from
https://omim.org/entry/612222
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Online Mendelian Inheritance in Man. (n.d.). GM1-gangliosidosis, type I. Retrieved from
https://omim.org/entry/230500