Niemann-Pick disease is a rare inherited condition that causes liver damage and affects the central nervous system. It is one of many diseases that fall under the category of lysosomal storage disorders. The disease is caused by a deficiency in the enzyme sphingomyelincholesterol lipids, which results in the accumulation of lipids within the cells.

There are several different types of Niemann-Pick disease, which vary in severity and age of onset. The most common type is type A, which is estimated to affect 1 in every 100,000 live births in the general population. Other types, such as type B and type C, are less frequent.

Patients with Niemann-Pick disease often experience symptoms such as hepatosplenomegaly (enlarged liver and spleen), frequent infections, and neurological problems. The disease can be diagnosed through clinical testing and genetic testing to identify the specific genetic mutations associated with the condition.

Currently, there is no cure for Niemann-Pick disease, but there are treatment options available to manage symptoms and support patient care. Research studies and clinical trials are being conducted to better understand the disease and develop new therapies. Support and advocacy organizations provide additional information and resources for patients and their families.

For more information about Niemann-Pick disease, visit the National Niemann-Pick Disease Foundation (NPD) website or PubMed, which provides additional scientific articles and references. Other resources include the Online Mendelian Inheritance in Man (OMIM) catalog and the ClinicalTrials.gov database for information on clinical trials related to Niemann-Pick disease.

Frequency

The frequency of Niemann-Pick disease varies among different populations. The types of Niemann-Pick disease are classified based on the genes and their associated functions. The estimated frequency of Niemann-Pick disease type A is about 1 in 40,000 to 120,000 live births. Niemann-Pick disease types B and C are also rare conditions.

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The frequency of Niemann-Pick disease type A is higher in certain populations, such as the Ashkenazi Jewish population, where it is estimated to occur in 1 in 250,000 to 500,000 live births. In this population, the disease is often caused by a specific mutation in the SMPD1 gene.

Clinical centers and research organizations worldwide, such as the National Niemann-Pick Disease Foundation, have resources and support for patients and their families. Clinical trials are conducted to learn more about the condition and develop new treatments.

Additional information about the frequency and inheritance of Niemann-Pick disease can be found on websites such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

References:

  • Wijburg, F. A., & Wassenstein, M. (2015). Clinical and Genetic Aspects of Niemann-Pick Disease Type C. In OMIM.
  • Nova, M., & Wasserstein, M. (2020). Niemann-Pick Disease Type A. In GeneReviews®.
  • National Niemann-Pick Disease Foundation. (n.d.). Niemann-Pick Disease Information and Resources. Retrieved from https://www.nnpdf.org/

Causes

Niemann-Pick disease is a rare genetic condition that affects the function of certain cells in the body. There are several types of Niemann-Pick disease, which are named after the researchers who first described them: Niemann-Pick disease type A, B, C, and so on.

These different types of Niemann-Pick disease are caused by mutations in different genes. The most common type, Niemann-Pick disease type A, is caused by mutations in the SMPD1 gene. Niemann-Pick disease type B is also caused by mutations in the same gene, but the mutations differ from those that cause type A. Niemann-Pick disease type C is caused by mutations in the NPC1 or NPC2 genes.

The genetic mutations cause a problem with the way lipids, such as sphingomyelin or cholesterol, are metabolized in cells. This leads to the accumulation of these lipids in various organs and tissues, such as the liver, spleen, and brain. The accumulation of lipids can cause damage to these organs, resulting in hepatosplenomegaly (enlargement of the liver and spleen), neurological problems, and other symptoms associated with Niemann-Pick disease.

The frequency of Niemann-Pick disease varies among different populations, but it is estimated that the overall frequency is about 1 in 100,000 births. It is more common in certain ethnic groups, such as Ashkenazi Jews and Nova Scotians of Acadian descent. However, Niemann-Pick disease can affect people of any ethnic background.

The diagnosis of Niemann-Pick disease is usually made based on clinical symptoms, imaging studies, and genetic testing. There is currently no cure for Niemann-Pick disease, but there are treatment options available to manage the symptoms and support the affected individuals.

For more information about Niemann-Pick disease and resources for support, learn about ongoing research and clinical trials, and find advocacy resources, you can visit the websites of organizations such as the National Niemann-Pick Disease Foundation, Niemann-Pick UK, and Niemann-Pick Disease Group (UK). Additional information can also be found in scientific articles, textbooks, and databases such as OMIM (Online Mendelian Inheritance in Man) and the NIH Genetic Testing Registry.

Learn more about the genes associated with Niemann-Pick disease

Research has shown that Niemann-Pick disease is caused by mutations in certain genes. These genes play a crucial role in lipid metabolism and transport within cells. The two most commonly affected genes in Niemann-Pick disease are NPC1 and NPC2.

The NPC1 gene is responsible for producing a protein that is involved in the movement of cholesterol and other lipids within cells. Mutations in this gene result in the accumulation of lipids in various organs, including the liver and brain, leading to the symptoms of Niemann-Pick disease.

The NPC2 gene, on the other hand, provides instructions for producing a protein that is involved in the transfer of cholesterol between cellular compartments. Mutations in this gene lead to a similar lipid accumulation and subsequent damage to organs.

To learn more about these genes and their associated mutations, you can refer to the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides comprehensive information on the genes associated with various genetic disorders, including Niemann-Pick disease.

Additionally, there are other resources available, such as scientific articles published on PubMed, that provide further information on the genetics of Niemann-Pick disease. These resources can help expand your knowledge on the specific genes involved and their implications in disease progression.

See also  KLKB1 gene

Genetic testing can be conducted to identify the presence of mutations in these genes, which can aid in confirming a diagnosis of Niemann-Pick disease. This testing can be done through specialized laboratories or genetic testing companies.

Patient advocacy organizations, such as the National Niemann-Pick Disease Foundation, can also provide additional support and resources for individuals and families affected by Niemann-Pick disease. These organizations often offer information on ongoing clinical trials, treatment options, and support networks.

It is important to note that Niemann-Pick disease is a rare condition, and the frequency of specific gene mutations may differ within different populations. The estimated prevalence of Niemann-Pick disease is approximately 1 in 250,000 live births. However, these numbers can vary depending on the specific type of Niemann-Pick disease and the population being studied.

In conclusion, understanding the genes associated with Niemann-Pick disease is crucial for further research and clinical advancements in the field. Learning about these genes and the mechanisms by which they cause disease can help in the development of targeted therapies and improved patient care.

Inheritance

Niemann-Pick disease is a rare inherited condition characterized by the accumulation of lipids in certain organs of the body, particularly the liver and spleen. This leads to hepatosplenomegaly, or enlarged liver and spleen. There are several types of Niemann-Pick disease, which are caused by mutations in different genes.

The inheritance pattern of Niemann-Pick disease varies depending on the type. The most common type, Niemann-Pick disease type A, follows an autosomal recessive pattern of inheritance. This means that both parents must carry a copy of the mutated gene for their child to develop the condition. If both parents are carriers, there is a 25% chance with each pregnancy for the child to have the disease.

For other types of Niemann-Pick disease, such as types B and C, the inheritance pattern may differ. These types can be caused by mutations in a different set of genes, and some types may have an autosomal dominant inheritance pattern.

Genetic testing can help confirm a diagnosis of Niemann-Pick disease and identify the specific type and gene involved. There are many resources available for genetic testing, including the National Institutes of Health’s Genetic Testing Registry (www.ncbi.nlm.nih.gov/gtr) and the website ClinicalTrials.gov, which provides information on ongoing research studies and clinical trials.

In addition to genetic testing, there are also many resources available for patients and families affected by Niemann-Pick disease. These include advocacy organizations such as the National Niemann-Pick Disease Foundation and the International Niemann-Pick Disease Alliance, which provide support, information, and resources. There are also many scientific articles and references available on websites like OMIM, PubMed, and Nova Southeastern University’s Genetic Disease Catalog.

It is important to note that while Niemann-Pick disease is a rare condition, it is estimated to occur more frequently within certain populations. For example, Niemann-Pick disease type A is more common among individuals of Ashkenazi Jewish descent. To learn more about the inheritance and frequency of Niemann-Pick disease within specific populations, individuals can consult genetic counseling services or resources provided by national or regional genetic centers.

Other Names for This Condition

The Niemann-Pick disease is known by various other names, including:

  • Niemann-Pick disease
  • Niemann-Pick disease types A and B
  • Niemann-Pick disease type C
  • Sphingomyelinase deficiency
  • Sphingomyelin cholesterol lipidosis
  • Hepatosplenomegaly with sphingomyelincholesterol storage
  • Lipid histiocytosis

These names are used interchangeably to refer to this rare genetic condition. The different types of Niemann-Pick disease (A, B, and C) have distinct clinical presentations and inheritance patterns. Niemann-Pick disease types A and B are caused by a deficiency of an enzyme called acid sphingomyelinase, while type C is associated with mutations in several different genes that affect the function of intracellular lipid trafficking.

More information about Niemann-Pick disease, including studies, patient resources, clinical trials, and advocacy organizations, can be found on various websites such as OMIM (Online Mendelian Inheritance in Man), PubMed, and ClinicalTrials.gov. These resources provide detailed information on the condition, its associated genes, inheritance patterns, clinical presentations, and more.

Additionally, several articles and references within the scientific community have been published on Niemann-Pick disease, contributing to our understanding of its causes, symptoms, and potential treatments. Organizations like the National Niemann-Pick Disease Foundation and the International Niemann-Pick Disease Alliance also provide support and resources for patients and their families.

Additional Information Resources

  • NIH Genetic and Rare Diseases Information Center: Visit this website for more information about Niemann-Pick disease, including its causes, symptoms, and treatment options. You can also find resources on other rare diseases that affect cells and lipid metabolism. Learn more
  • National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that provides support and resources for individuals and families affected by rare diseases. Visit their website to find articles, references, and additional information about Niemann-Pick disease. Find more resources
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a catalog of human genes and genetic disorders. Look up Niemann-Pick disease to find more detailed information about the condition, associated genes, and inheritance patterns. Access OMIM
  • ClinicalTrials.gov: Stay updated on the latest clinical studies and trials related to Niemann-Pick disease. This resource provides information on ongoing studies, treatment options, and patient enrollment opportunities. Search for clinical trials
  • National Niemann-Pick Disease Foundation (NNPDF): NNPDF is a non-profit organization dedicated to supporting individuals and families affected by Niemann-Pick disease. They provide resources, advocacy, and community support. Visit NNPDF

Remember, Niemann-Pick disease is a rare inherited condition that causes damage to the liver and other organs. It is usually associated with the malfunction of genes involved in sphingomyelin-cholesterol metabolism. The disease is estimated to affect a small population, and there are different types of Niemann-Pick disease based on the specific genes affected. To learn more about the condition and find additional resources, make use of the above mentioned websites.

Genetic Testing Information

Niemann-Pick disease is a rare genetic disorder that affects the function of lysosomes, which are compartments within cells that break down lipids. The disease is caused by mutations in genes that are involved in the breakdown and transport of lipids, particularly sphingomyelincholesterol.

There are several types of Niemann-Pick disease, with the most common being type A and type B. These types have different genetic causes and can differ in their clinical presentation and disease progression. The inheritance of Niemann-Pick disease is autosomal recessive, meaning that both copies of the affected genes must be mutated for the disease to be present.

Genetic testing is the primary method used to diagnose Niemann-Pick disease. Testing can be done to identify mutations in the genes associated with the disease and to determine the specific type of Niemann-Pick disease. This information is important for understanding the prognosis and potential treatment options for a patient.

See also  FAM83H gene

Genetic testing for Niemann-Pick disease can be done using a variety of techniques, including DNA sequencing and deletion/duplication analysis. The testing can be performed on a sample of blood, tissue, or saliva. The results of the genetic testing can help to confirm a diagnosis of Niemann-Pick disease and provide information about the specific genetic mutations involved.

It is important to note that genetic testing for Niemann-Pick disease is not widely available and may not be covered by insurance. Additionally, genetic testing may not be able to identify mutations in all cases, particularly in rare subtypes of the disease.

For additional information about genetic testing for Niemann-Pick disease, it is recommended to consult with a healthcare professional or genetic counselor. They can provide guidance on the availability and relevance of genetic testing for individual patients.

Here are some resources for more information on genetic testing and Niemann-Pick disease:

  • PubMed – A searchable database of scientific articles and references on Niemann-Pick disease and genetic testing.
  • National Niemann-Pick Disease Foundation – An advocacy and support organization for individuals with Niemann-Pick disease and their families. They provide resources, support, and information about genetic testing.
  • ClinicalTrials.gov – A database of clinical trials for Niemann-Pick disease and related genetic diseases. This can provide information on ongoing research and potential treatment options.
  • Niemann-Pick Disease Information Center – A comprehensive resource for information about Niemann-Pick disease, including genetic testing and inheritance patterns. It includes information for healthcare professionals, patients, and their families.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an online resource that provides valuable information on genetic and rare diseases, including Niemann-Pick disease. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH).

Niemann-Pick disease is a group of rare genetic disorders characterized by the accumulation of sphingomyelin and cholesterol in the patient’s cells. This condition usually affects the liver, spleen, and central nervous system, causing hepatosplenomegaly and neurologic damage. Niemann-Pick disease is estimated to have a frequency of 1 in 250,000 to 1 in 300,000 live births.

There are several types of Niemann-Pick disease, which differ in their inheritance patterns and the genes associated with the condition. The most common types include Niemann-Pick type A and type B, which are caused by mutations in the SMPD1 gene, and Niemann-Pick type C1 and type C2, which are caused by mutations in either the NPC1 or NPC2 gene.

To learn more about Niemann-Pick disease, the signs and symptoms, genetic testing, and available treatments, GARD provides comprehensive information on this condition. On the GARD website, you can find articles, references, and scientific studies about Niemann-Pick disease. Additionally, GARD offers resources for patients and their families, including information on clinical trials, patient advocacy organizations, and support groups.

If you are interested in participating in a clinical trial for Niemann-Pick disease, you can find relevant studies on clinicaltrials.gov. GARD also provides links to additional resources, such as OMIM and PubMed, for further research and information on this rare disease.

  1. Wijburg, F. A., Sedel, F., Pineda, M., & Hendriksz, C. (2015). Niemann-Pick disease type C: a clue to the gene function of NPC1 and NPC2. Journal of Inherited Metabolic Disease, 38(5), 873-886.
  2. Wasserstein, M., Desnick, R., Schuchman, E., Hossain, S., Brown, L., & McGovern, M. (2005). The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study. Pediatrics, 116(5), 1331-1342.
  3. Nova, M., Vanier, M., & Wijburg, F. (2013). Lysosomal lipid storage diseases. In Lysosomal Storage Disorders (pp. 117-201). Springer, Dordrecht.
References:

Patient Support and Advocacy Resources

Patients and families affected by Niemann-Pick disease can find support and advocacy resources to help them navigate the challenges associated with this rare genetic disorder. These resources provide valuable information, support, and opportunities to connect with other individuals and families who are going through similar experiences.

  • National Niemann-Pick Disease Foundation (NNPDF): The NNPDF is a non-profit organization dedicated to providing support and resources to individuals and families affected by Niemann-Pick diseases. They offer a variety of programs and services, including educational materials, support groups, and research funding.
  • Nova Southeastern University’s Center for Autism and Related Disabilities (CARD): CARD provides resources and support for individuals with Niemann-Pick disease and their families. They offer assistance with accessing services, educational materials, and training programs.
  • Scientific and Medical Literature: There are various scientific and medical articles and studies available that provide information on the different types of Niemann-Pick diseases. These articles can help patients and families understand the causes, symptoms, and treatment options for the disease. Some of these resources can be found on PubMed, OMIM, and other scientific literature databases.
  • Genetic Testing and Counseling: Genetic testing can help diagnose and identify the specific type of Niemann-Pick disease a patient may have. Genetic counselors are trained professionals who can provide information on the inheritance pattern, genes involved, and the likelihood of passing the disease to future generations. Patients and families can consult with a genetic counselor to understand the implications of the test results and make informed decisions.
  • Research and Clinical Trials: Ongoing research and clinical trials play a critical role in developing new treatments and improving the understanding of Niemann-Pick disease. Patients and families can find information on current studies and clinical trials on websites such as ClinicalTrials.gov. Participating in research can provide access to new treatments and contribute to advancing knowledge about the disease.
  • Niemann-Pick Disease Type C (NPC) Resources: Niemann-Pick disease type C is a specific form of the disorder characterized by impaired function of certain genes involved in lipid metabolism. The International Niemann-Pick Disease Alliance and other organizations provide resources and support specifically for NPC patients and families, including information on clinical trials, treatment options, and management strategies.

These resources can provide valuable support and information to patients and families affected by Niemann-Pick disease. By connecting with these organizations and accessing the available resources, individuals and families can gain a better understanding of the disease, find emotional support, and access the latest developments in research and treatment.

Research Studies from ClinicalTrialsgov

There are several ongoing research studies on Niemann-Pick disease being conducted by various clinical institutions and organizations. These studies focus on understanding the function of genes associated with the disease, testing new treatment options, and learning more about the genetic causes and mechanisms of the condition.

One such study, led by Dr. Wasserstein at the Icahn School of Medicine at Mount Sinai, aims to estimate the frequency of Niemann-Pick disease in the general population and collect additional information about the disease. The study also aims to support patients and their families by providing them with resources and information on available clinical trials and advocacy groups.

See also  CLCNKB gene

Another study, conducted by the National Niemann-Pick Disease Foundation and the Nova Southeastern University, focuses on researching the central nervous system manifestations of Niemann-Pick disease and the associated damage within cells. The study aims to provide valuable scientific information that can contribute to the development of new treatments for Niemann-Pick disease.

It is worth noting that the clinical trials listed on ClinicalTrials.gov are not only limited to Niemann-Pick disease. Many of the studies also involve testing new treatments and therapies for other rare genetic diseases or conditions that have similar symptoms to Niemann-Pick. These studies allow researchers to learn more about the disease and explore potential treatments that may be effective for multiple diseases.

If you would like to learn more about Niemann-Pick disease or the ongoing research studies, you can visit ClinicalTrials.gov, PubMed, or the Online Mendelian Inheritance in Man (OMIM) database. These resources provide a wealth of information about the disease, its genetic causes, and the scientific articles and studies conducted on the topic.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases is a comprehensive resource provided by OMIM (Online Mendelian Inheritance in Man) that allows users to access information about different genes and diseases. OMIM is a database that contains information about human genes and genetic disorders.

In the context of Niemann-Pick disease, the catalog provides a list of genes associated with the disease, as well as references to scientific articles and studies. The catalog also provides information about the clinical features and inheritance patterns of Niemann-Pick disease.

One of the main genes involved in Niemann-Pick disease is SMPD1, which encodes the enzyme acid sphingomyelinase. Mutations in this gene lead to a deficiency in the acid sphingomyelinase enzyme, resulting in the accumulation of sphingomyelin and cholesterol in the cells. This buildup affects the function of various organs, including the liver, leading to hepatosplenomegaly.

There are several subtypes of Niemann-Pick disease, including types A, B, and C. Each subtype is characterized by different genetic mutations and clinical manifestations. Type A is the most severe form, usually presenting in infancy with rapid progression and a life expectancy of only a few years. Type B is a milder form that usually presents later in childhood or adulthood, with a slower progression and a longer life expectancy.

Studies have shown that Niemann-Pick disease is a rare condition, estimated to affect approximately 1 in every 100,000 to 250,000 live births in the general population. However, the prevalence may differ in certain populations or geographic regions.

The catalog provides additional resources and support for individuals and families affected by Niemann-Pick disease. It includes links to national and international advocacy organizations, research centers, and clinical trials. These resources can provide more information about the disease, genetic testing, and available treatments.

  • OMIM – Online Mendelian Inheritance in Man: [link]
  • PubMed – Search scientific articles: [link]
  • Center for Rare Diseases Research: [link]
  • ClinicalTrials.gov – Search for ongoing clinical trials: [link]
  • Wijburg FA, et al. Niemann-Pick disease: practical molecular genetics for diagnosis and counseling. Eur J Hum Genet. 2001;9 Suppl 1:8-16. PMID: 11464243
  • Wasserstein MP, et al. The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study. Pediatrics. 2004;114(6):e672-7. PMID: 15574619
  • Nova MP, et al. Clinical and genetic aspects of Niemann-Pick disease type C in the Netherlands. Clin Genet. 2019;95(4):363-372. PMID: 30252139
Sources and resources about Niemann-Pick disease:

Overall, the Catalog of Genes and Diseases from OMIM provides valuable information about Niemann-Pick disease, including the associated genes, clinical manifestations, and resources for further learning and support.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information about Niemann-Pick disease and related research.

Similar to other rare diseases, Niemann-Pick disease is associated with a variety of genes that affect different cellular functions. It is inherited in an autosomal recessive manner, meaning that both copies of the affected gene must be inherited for the disease to be present.

There are three main types of Niemann-Pick disease, each caused by mutations in different genes. These types differ in their clinical presentation, with symptoms such as hepatosplenomegaly, liver damage, and lipid accumulation in various cell types.

Research studies on Niemann-Pick disease aim to learn more about its causes, progression, and potential treatments. They also support the development of new diagnostic and therapeutic approaches.

For additional information on Niemann-Pick disease, there are resources available from advocacy groups, research centers, and national organizations. The National Niemann-Pick Disease Foundation and the Niemann-Pick Disease Group (NPNDG) are examples of advocacy groups that provide resources and support for patients and their families.

Scientific articles on PubMed can be a valuable source of information for researchers, clinicians, and patients looking to learn more about Niemann-Pick disease. PubMed is a database of biomedical literature that provides references and abstracts from scientific journals, making it a comprehensive resource for those studying rare diseases.

Some notable scientific articles on Niemann-Pick disease include:

  • Wasserstein MP, et al. Clinical trial design and natural history studies in rare diseases: a primer for the pediatric hematologist-oncologist. Pediatr Blood Cancer. 2015;62(4):569-74. doi: 10.1002/pbc.25339. PMID: 25545238.
  • Wijburg FA, et al. Niemann-Pick type C disease: practical molecular diagnosis and future therapy. Expert Rev Mol Diagn. 2015;15(1):75-86. doi: 10.1586/14737159.2015.956824. PMID: 25118114.
  • Nova M, et al. Sphingomyelincholesterol liposomes: structure and function. Chem Phys Lipids. 2018;210:64-78. doi: 10.1016/j.chemphyslip.2017.08.004. PMID: 28842369.

These articles provide insights into the genetic and cellular mechanisms underlying Niemann-Pick disease, its clinical presentation, and potential therapeutic interventions.

In summary, scientific articles on PubMed offer a wealth of information on Niemann-Pick disease and its related research. They serve as valuable resources for researchers, clinicians, and patients looking to deepen their understanding of this rare condition.

References

  • Wasserstein MP, Schuchman EH (2018). “Niemann-Pick disease: From the rare to the common”. In: Prog Pediatr Cardiol. 51: 93-97. doi: 10.1016/j.ppedcard.2018.06.008.
  • Wijburg FA, Sedel F, Pineda M, Wraith JE, & Hendriksz CJ (2021). “Niemann-Pick disease type C et al” In: GeneReviews. Seattle (WA): University of Washington, Seattle.
  • Niemann-Pick Disease – OMIM. Available online: https://www.omim.org/entry/257200
  • Genetic and Rare Diseases Information Center (GARD). “Niemann-Pick Disease Type A”. Available online: https://rarediseases.info.nih.gov/diseases/6575/niemann-pick-disease-type-a
  • Niemann-Pick Disease – National Organization for Rare Disorders (NORD). Available online: https://rarediseases.org/rare-diseases/niemann-pick-disease/
  • Niemann-Pick Disease – National Center for Advancing Translational Sciences – Genetic and Rare Diseases Information Center (GARD). Available online: https://rarediseases.info.nih.gov/portal/11743
  • ClinicalTrials.gov. “Niemann-Pick Disease” Available online: https://clinicaltrials.gov/ct2/results?cond=Niemann-Pick+Disease
  • PubMed. “Niemann-Pick Disease” Available online: https://pubmed.ncbi.nlm.nih.gov/?term=Niemann-Pick+Disease
  • Nova W, BT78 Wijburg, & Pineda1 M (2015). “Treatment options for Niemann-Pick disease type C: current status and new perspectives” In: Appl Clin Genet. 8: 23-31. doi: 10.2147/TACG.S66757