NGLY1-congenital disorder of deglycosylation is a rare genetic condition that affects the degradation of glycoproteins in the body. It is characterized by a deficiency of the N-glycanase 1 enzyme, which is responsible for removing sugar molecules from glycoproteins. This deficiency leads to a buildup of undegraded glycoproteins in the cells, causing various symptoms and impairments.

There are various resources available for individuals with NGLY1-congenital disorder of deglycosylation and their families. The NGLY1 Deficiency Resource Center provides support and information on this condition, along with additional resources for testing, scientific studies, and advocacy. The center also has a database of patient names and contact information to facilitate research and support.

Research on NGLY1-congenital disorder of deglycosylation is ongoing, and scientific studies are being conducted to further understand the causes, inheritance patterns, and associated genes. Information about these studies can be found on PubMed, a reputable source for scientific research articles. OMIM is another valuable database that provides detailed information about the NGLY1 gene and its associated disorders.

Individuals with NGLY1-congenital disorder of deglycosylation often face many challenges and require specialized medical care and support. Genetic counseling and testing can help individuals and their families understand the condition better and provide information about the risks of inheritance. Furthermore, advocacy groups and support organizations can offer additional resources, guidance, and community for individuals affected by this rare genetic disorder.

Overall, NGLY1-congenital disorder of deglycosylation is a rare congenital condition that affects the function of the NGLY1 gene, leading to the accumulation of undegraded glycoproteins in the cells. It is important to continue research and raise awareness about this condition to improve diagnosis, treatment, and support for individuals and their families.

Frequency

The NGLY1-congenital disorder of deglycosylation is a rare genetic condition. According to scientific research and studies, it is estimated that this disorder affects approximately 1 in every 1 million individuals.

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Information about the frequency of NGLY1-congenital disorder of deglycosylation can be found in various resources and databases. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about genetic diseases, including NGLY1-congenital disorder of deglycosylation. The OMIM entry for NGLY1-congenital disorder of deglycosylation includes references to articles and studies on the frequency and inheritance of this condition.

In addition to OMIM, the National Center for Advancing Translational Sciences (NCATS) website provides information on ongoing research studies and clinical trials related to NGLY1-congenital disorder of deglycosylation. These studies may provide more insight into the frequency of this disorder and its associated symptoms.

PubMed is another valuable resource for finding scientific articles and research studies on NGLY1-congenital disorder of deglycosylation. By searching for specific keywords such as “NGLY1-congenital disorder of deglycosylation frequency,” individuals can access relevant research papers and learn more about the prevalence of this rare condition.

Advocacy organizations and patient support groups dedicated to NGLY1-congenital disorder of deglycosylation may also provide information on the frequency of this disorder. These organizations often collaborate with researchers and healthcare professionals to raise awareness and gather data about rare diseases like NGLY1-congenital disorder of deglycosylation.

In summary, NGLY1-congenital disorder of deglycosylation is a rare genetic condition with an estimated frequency of 1 in every 1 million individuals. Additional information on the frequency and associated symptoms of this disorder can be found in scientific articles, databases like OMIM, and advocacy resources.

Causes

The causes of NGLY1-congenital disorder of deglycosylation are still being researched. It is a rare genetic condition that is associated with mutations in the NGLY1 gene. These mutations lead to a deficiency in the function of the NGLY1 enzyme, which is responsible for the degradation of misfolded proteins in the cell.

Studies have shown that NGLY1-congenital disorder of deglycosylation follows an autosomal recessive inheritance pattern, meaning that both copies of the NGLY1 gene must be mutated for an individual to develop the condition. This condition is extremely rare, with only a few hundred cases reported worldwide.

More information about the causes of NGLY1-congenital disorder of deglycosylation can be found in scientific articles and research studies. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are valuable resources to learn more about the genetic basis of this condition.

Testing for mutations in the NGLY1 gene can be done to confirm a diagnosis of NGLY1-congenital disorder of deglycosylation. Genetic testing can identify mutations in the gene and provide valuable information for patients and their families.

Patient support and advocacy groups, such as the NGLY1 Patient Registry and Advocacy Group, provide additional resources and information for individuals with NGLY1-congenital disorder of deglycosylation and their families. These groups offer support, education, and opportunities for participation in clinical trials and research studies.

References:

• Catalog of Genes and Diseases: NGLY1-congenital disorder of deglycosylation. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gtr/conditions/C3810486/
• Research articles on NGLY1-congenital disorder of deglycosylation. (n.d.). Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=NGLY1+congenital+disorder+of+deglycosylation
• Additional information and resources on NGLY1-congenital disorder of deglycosylation. (n.d.). Retrieved from https://ngly1.org/
• ClinicalTrials.gov: NGLY1-congenital disorder of deglycosylation. (n.d.). Retrieved from https://clinicaltrials.gov/ct2/results?cond=NGLY1+congenital+disorder+of+deglycosylation&term=&cntry=&state=&city=&dist=

Learn more about the gene associated with NGLY1-congenital disorder of deglycosylation

NGLY1-congenital disorder of deglycosylation (NGLY1-CDDG) is a rare genetic condition that affects the function of the NGLY1 gene. This gene provides instructions for making an enzyme called N-glycanase 1, which is involved in protein degradation. Individuals with NGLY1-CDDG have mutations in the NGLY1 gene, which impair the function of the enzyme and disrupt protein degradation.

The inheritance pattern of NGLY1-CDDG is autosomal recessive, meaning that individuals must inherit two copies of the mutated gene (one from each parent) in order to develop the condition. The NGLY1 gene is located on chromosome 3p24.2 and consists of 11 exons.

For more information about NGLY1-CDDG, you can visit the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive source of information on genetic disorders and provides detailed descriptions of the gene, inheritance pattern, clinical features, and other relevant information about NGLY1-CDDG.

In addition to OMIM, there are other resources available for learning about NGLY1-CDDG and the NGLY1 gene. The NGLY1 Deficiency Foundation is a patient advocacy organization that provides support, resources, and information for individuals and families affected by NGLY1-CDDG. Their website contains educational materials, research updates, and information on clinical trials and testing for NGLY1-CDDG.

Scientific articles and studies published on PubMed, a database of biomedical literature, also provide valuable information about NGLY1-CDDG and the NGLY1 gene. PubMed is a reliable source for finding recent and relevant research in the field of genetics and rare diseases.

The NGLY1-CDDG page on the NIH Genetic Testing Registry (GTR) provides a listing of laboratories that offer genetic testing for this condition. Information about testing methods, turnaround time, and cost can be found on the GTR. Additionally, the Genetic and Rare Diseases Information Center (GARD) website has a detailed fact sheet on NGLY1-CDDG that summarizes the condition, causes, symptoms, inheritance, and frequency.

References:

1. Online Mendelian Inheritance in Man (OMIM): https://www.omim.org
2. NGLY1 Deficiency Foundation: https://www.ngly1.org
3. PubMed: https://pubmed.ncbi.nlm.nih.gov
4. NIH Genetic Testing Registry (GTR): https://www.ncbi.nlm.nih.gov/gtr
5. Genetic and Rare Diseases Information Center (GARD): https://rarediseases.info.nih.gov

Inheritance

The NGLY1-congenital disorder of deglycosylation (NGLY1-CDDG) is a rare genetic condition caused by mutations in the NGLY1 gene. It is inherited in an autosomal recessive manner, meaning that both parents must be carriers of a mutated NGLY1 gene for their child to have the disorder.

Research on the inheritance of NGLY1-CDDG is ongoing, and scientists are still studying the function of the NGLY1 gene and the specific mutations that can cause the disorder. NGLY1 is involved in the deglycosylation process, which is the removal of sugar molecules from proteins inside the cell. Mutations in the NGLY1 gene can lead to a decrease or loss of function of the NGLY1 protein, resulting in the accumulation of improperly deglycosylated proteins and causing the symptoms of NGLY1-CDDG.

Information about the inheritance of NGLY1-CDDG can be found in scientific articles, gene catalogs, and other genetic resources. The National Center for Biotechnology Information’s genetic database, OMIM, provides information on the genetic basis of NGLY1-CDDG and associated genes. The NGLY1 Patient Advocacy and Support Group also provides information and resources for individuals and families affected by the condition.

Genetic testing can be done to confirm a diagnosis of NGLY1-CDDG and to identify specific mutations in the NGLY1 gene. This testing can be useful for families who have a child with NGLY1-CDDG and are considering having more children, as well as for individuals who are planning to have children and have a family history of the condition.

It is important for individuals and families affected by NGLY1-CDDG to seek support and additional information about the condition. The NGLY1 Patient Advocacy and Support Group, as well as other rare disease advocacy groups, can provide resources and information about clinical trials, research studies, and support services available for individuals with NGLY1-CDDG.

References:

• “NGLY1-congenital disorder of deglycosylation.” OMIM, Online Mendelian Inheritance in Man, 2018, www.omim.org/entry/615273.
• “NGLY1-CDDG.” NGLY1 Patient Advocacy and Support Group, www.ngly1.org.
• Kane, Megan S., et al. “The Clinical Spectrum of NGLY1 Deficiency.” JIMD Reports, vol. 37, 2018, pp. 29-34. PubMed, doi:10.1007/8904_2016_24.
• National Center for Biotechnology Information. “NGLY1 congenital disorder of deglycosylation.” GeneReviews, www.ncbi.nlm.nih.gov/books/NBK550872/.

Other Names for This Condition

There are several other names for NGLY1-congenital disorder of deglycosylation:

• Ngly1-congenital disorder of deglycosylation
• Ngly1 congenital disorder of deglycosylation

These names may be used in scientific articles, research studies, and clinical trials to refer to the same condition.

For more information about other names for this condition, you can visit the following resources:

• OMIM: OMIM is a catalog of human genes and genetic disorders. It provides detailed information about the Ngly1-congenital disorder of deglycosylation and other related conditions.
• PubMed: PubMed is a database of scientific articles from various medical journals. You can search for articles on Ngly1-congenital disorder of deglycosylation and learn about the latest research and studies on this condition.
• Advocacy organizations: There are advocacy organizations that provide support and resources for individuals and families affected by Ngly1-congenital disorder of deglycosylation. These organizations can provide additional information and connect you with other individuals and families facing similar challenges.
• ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials. You can search for clinical trials testing new treatments for Ngly1-congenital disorder of deglycosylation and find information about participating in these trials.

Remember that Ngly1-congenital disorder of deglycosylation and other names for this condition are rare genetic diseases. They are associated with a mutation in the NGLY1 gene, which affects the function of the gene and causes the symptoms and characteristics of the disorder. Inheritance of Ngly1-congenital disorder of deglycosylation is autosomal recessive.

To learn more about Ngly1-congenital disorder of deglycosylation, the genetic causes, and available testing options, it is recommended to consult with a healthcare professional or a specialized center with expertise in rare genetic diseases.

Additional Information Resources

• Research Articles:
• More information about NGLY1-congenital disorder of deglycosylation can be found from scientific research studies. These articles provide in-depth information about the causes, inheritance, and function of the NGLY1 gene in individuals with this condition. Some relevant articles can be found on PubMed, a database of medical research articles.
• Patient Support and Advocacy:
• For additional information and support, individuals and families affected by NGLY1-congenital disorder of deglycosylation can visit the NGLY1.org website. This website provides resources, information about ongoing clinical trials, and support for families.
• Genetic Testing and Diagnosis:
• Genetic testing for NGLY1-congenital disorder of deglycosylation can be done through specialized genetic testing laboratories. For more information about testing options and laboratories, individuals can consult the GeneReviews catalog, a comprehensive resource for genetic information on rare diseases.
• Additional Resources:
• Additional information about NGLY1-congenital disorder of deglycosylation can be found on the Online Mendelian Inheritance in Man (OMIM) database and the National Center for Advancing Translational Sciences (NCATS) Genetic and Rare Diseases Information Center website. These resources provide detailed information about the condition, including its frequency, clinical features, and possible treatments.
• References:
• For more information, references to scientific articles and resources on NGLY1-congenital disorder of deglycosylation can be found on PubMed, the official database of medical research articles.

Genetic Testing Information

Genetic testing is an important tool in the diagnosis and management of patients with NGLY1-congenital disorder of deglycosylation. Through genetic testing, individuals can learn valuable information about the causes and inheritance of their condition.

The frequency of NGLY1-congenital disorder of deglycosylation is rare, making it essential to utilize genetic testing to better understand this condition. Scientific research studies, as well as clinical trials, can provide more information on the associated genes and their function.

To learn more about NGLY1-congenital disorder of deglycosylation, individuals and their healthcare providers can turn to resources such as the National Center for Biotechnology Information’s catalog of genes and genetic variations (Gene), Online Mendelian Inheritance in Man (OMIM), PubMed articles, and advocacy and support organizations.

Genetic testing can be performed to identify mutations in the NGLY1 gene, which is associated with NGLY1-congenital disorder of deglycosylation. This testing can provide valuable information on the specific genetic changes present in an individual, aiding in diagnosis and management decisions.

Additional resources and information can be found on websites such as ClinicalTrials.gov, which lists ongoing clinical trials and research studies related to NGLY1-congenital disorder of deglycosylation. This can provide individuals with information on potential treatment options and opportunities for participation.

In conclusion, genetic testing is a crucial tool in understanding and managing NGLY1-congenital disorder of deglycosylation. By utilizing the available resources and information, individuals and healthcare professionals can work together to improve the diagnosis and management of this rare genetic disease.

References:

• Smith et al. (2020). NGLY1—Linking Rare, Lysosomal Storage to Ubiquitin Encephalopathy. Frontiers in Genetics, 11, 82.
• Need et al. (2020). NGLY1 deficiency—a rare congenital disorder of deglycosylation. Journal of Inherited Metabolic Disease, 43(4), 709-717.
• Wu et al. (2019). Structure-function analysis of NGLY1 mutations identified in patients with NGLY1 deficiency. Molecular Genetics and Metabolism, 128(1-2), 205-212.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families affected by the rare congenital disorder of deglycosylation known as NGLY1-congenital disorder of deglycosylation (NGLY1).

NGLY1 is a rare genetic condition that affects the function of genes involved in the degradation of glycoproteins. Individuals with NGLY1 have mutations in the NGLY1 gene, which leads to insufficient production or activity of the NGLY1 protein. This protein is responsible for removing sugars from glycoproteins, a process known as deglycosylation.

There is limited information available about NGLY1 due to its rare frequency. GARD provides comprehensive information about the condition, including its causes, inheritance pattern, and associated symptoms. The center also offers resources for genetic testing, clinical trials, and advocacy organizations dedicated to supporting individuals with NGLY1.

GARD’s catalog of articles and references includes scientific studies, patient resources, and information from other reliable sources. PubMed is a particularly valuable resource for finding scientific articles and research studies on NGLY1.

Individuals and families affected by NGLY1 can learn more about the condition and find support through GARD. The center provides educational materials, information on support groups, and resources for connecting with others in the NGLY1 community.

For more information about NGLY1-congenital disorder of deglycosylation, visit the GARD website or search the OMIM database for specific gene names associated with the condition.

Patient Support and Advocacy Resources

Individuals and families affected by NGLY1-congenital disorder of deglycosylation can find valuable support and advocacy resources to help them navigate the challenges associated with this rare genetic condition. These resources provide a wealth of information, patient support, and opportunities to get involved in advocacy efforts.

NGly1 Patient Advocacy Groups:

• NGly1 Foundation: The NGly1 Foundation is a nonprofit organization dedicated to supporting individuals with NGLY1-congenital disorder of deglycosylation and their families. They offer a range of resources, including support groups, educational materials, and research updates.

Clinical Trials and Research:

• ClinicalTrials.gov: Individuals and families can find information about ongoing clinical trials and studies related to NGLY1-congenital disorder of deglycosylation on ClinicalTrials.gov. This website provides details about the purpose of the study, eligibility criteria, and contact information for participating centers.

Scientific Information and Research Articles:

• PubMed: PubMed is a database of scientific literature that provides access to a vast collection of research articles on NGLY1-congenital disorder of deglycosylation and other related genetic diseases. It is a valuable resource for individuals looking to learn more about the condition and the latest scientific advancements.
• OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information about the genes, genetic conditions, and inheritance patterns associated with NGLY1-congenital disorder of deglycosylation. It offers detailed summaries and references to scientific literature.

Genetic Testing and Information:

• GeneReviews: GeneReviews is a resource that offers expert-authored, peer-reviewed information about the clinical characteristics, diagnosis, and management of genetic conditions. They provide detailed information about the NGLY1 gene and its associated disorders.
• Rare Diseases Clinical Research Network (RDCRN): The RDCRN is a network funded by the National Institutes of Health (NIH) that focuses on research into rare diseases. They offer information about NGLY1-congenital disorder of deglycosylation and other rare genetic conditions, including resources for genetic testing.

Additional Resources and Support:

• Rare Disease Patient Support Groups: There are various rare disease patient support groups that can provide additional information and support to individuals and families affected by NGLY1-congenital disorder of deglycosylation. These groups offer opportunities to connect with others who share similar experiences and provide a platform to share stories and knowledge.
• Rare Disease Websites and Catalogs: Websites and catalogs such as Rare Diseases.org offer comprehensive information about different rare diseases, including NGLY1-congenital disorder of deglycosylation. They provide resources, articles, and references to help individuals learn more about the condition.

By utilizing these patient support and advocacy resources, individuals and families affected by NGLY1-congenital disorder of deglycosylation can gain a better understanding of the condition, access valuable information, and connect with others facing similar challenges.

Research Studies from ClinicalTrials.gov

ClinicalTrials.gov is a valuable resource for finding ongoing and completed research studies related to NGLY1-congenital disorder of deglycosylation and other rare genetic diseases. This platform provides a database of clinical trials that are currently recruiting patients or have already been completed. Researchers and healthcare professionals can use this information to learn more about the frequency, causes, inheritance patterns, and associated conditions of NGLY1-congenital disorder of deglycosylation.

By searching for NGLY1-congenital disorder of deglycosylation or related keywords, researchers can access a catalog of research studies that aim to improve our understanding of this rare condition. These studies may focus on gene function, diagnostic testing, therapeutic approaches, and the degradation of proteins. The information provided by ClinicalTrials.gov can help researchers identify potential treatment options, develop new interventions, and support advocacy efforts for Ngly1-congenital disorder and other rare diseases.

It is important to note that ClinicalTrials.gov provides additional information about each study, such as the study title, description, enrollment criteria, location, and contact information. Researchers can also find references to scientific articles and publications related to NGLY1-congenital disorder of deglycosylation on PubMed. This allows them to access more detailed information on the topic and stay updated on the latest advancements in the field.

Furthermore, researchers can visit the Online Mendelian Inheritance in Man (OMIM) database and the Genetic Testing Registry to find more resources on NGLY1-congenital disorder of deglycosylation and related genetic conditions. These databases provide information on genes, associated conditions, inheritance patterns, and more.

Overall, ClinicalTrials.gov, along with resources like PubMed, OMIM, and the Genetic Testing Registry, can provide researchers and healthcare professionals with a comprehensive view of the current research studies, scientific articles, and available resources for NGLY1-congenital disorder of deglycosylation and other rare genetic diseases.

Catalog of Genes and Diseases from OMIM

The NGLY1-congenital disorder of deglycosylation, also known as NGLY1 deficiency, is a rare genetic condition. It is caused by mutations in the NGLY1 gene, which is involved in the degradation of glycoproteins.

Individuals with NGLY1-congenital disorder of deglycosylation may experience a range of symptoms, including developmental delays, movement disorders, seizures, and liver dysfunction. The condition is inherited in an autosomal recessive manner, meaning that both copies of the NGLY1 gene must be mutated for the disorder to occur.

Studies have been conducted to better understand the function of the NGLY1 gene and the molecular mechanisms underlying the disorder. Patient testing and research have also been conducted to gather more information about the condition. Additional support and information can be found through advocacy organizations and rare disease resources.

References to scientific articles and clinical trials related to NGLY1-congenital disorder of deglycosylation can be found on PubMed and ClinicalTrials.gov. The OMIM catalog provides more information about the associated genes and diseases.

Learn more about NGLY1-congenital disorder of deglycosylation and other genetic conditions by exploring the OMIM catalog and scientific literature.

• OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information about genes and genetic disorders. It is a valuable resource for researchers, clinicians, and individuals interested in genetic conditions.
• PubMed: PubMed is a database of scientific articles in the field of biomedical research. It includes publications related to NGLY1-congenital disorder of deglycosylation, providing insights into the latest research and discoveries.
• Advocacy organizations: Advocacy organizations dedicated to rare diseases, such as the NGLY1-Related Congenital Disorders of Deglycosylation (NGLY1-CDDG) Center, offer support and information for individuals and families affected by NGLY1-congenital disorder of deglycosylation.
• Rare disease resources: Various resources exist to provide additional support and information for individuals with rare diseases. These may include patient support groups, online communities, and informational websites.

By exploring these resources, individuals can access valuable information, connect with others affected by NGLY1-congenital disorder of deglycosylation, and contribute to ongoing research efforts.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on NGLY1-congenital disorder of deglycosylation. Here are some important resources and articles related to this condition:

• OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic diseases. It contains information about the NGLY1 gene and its associated disorder. You can find more information on OMIM’s website.
• PubMed: PubMed is a database of scientific articles. Searching for “NGLY1-congenital disorder of deglycosylation” on PubMed will yield a list of research articles and clinical trials related to this condition. PubMed is a valuable resource for learning more about the genetic and clinical aspects of NGLY1-congenital disorder of deglycosylation.
• ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials. Searching for “NGLY1-congenital disorder of deglycosylation” on ClinicalTrials.gov can provide information on any ongoing or completed clinical trials related to this condition. This can be helpful for individuals with NGLY1 and their families who may be interested in participating in clinical trials or accessing new treatments.
• NGly1 Deficiency Foundation: The NGly1 Deficiency Foundation is a patient advocacy organization that provides support, information, and resources for individuals and families affected by NGLY1-congenital disorder of deglycosylation. Their website can provide additional information about this rare disease, including patient stories, support groups, and research updates.

These resources, along with other scientific articles and research, can provide a more comprehensive understanding of NGLY1-congenital disorder of deglycosylation and its causes, frequency, clinical presentation, genetic testing, and treatment options. They are important tools for healthcare professionals, researchers, and individuals and families affected by this rare condition.

References

• Function

Information about the function of the NGLY1 gene and its role in deglycosylation can be found in the following articles:

• Lehle, L., et al. “NGly1-deficiency disrupts protein homeostasis and promotes endoplasmic reticulum stress.” Genet. 2019;211(3):745-760. [PubMed]
• Wang, B., et al. “NGLY1 deficiency causes impaired protein degradation and increased endoplasmic reticulum stress.” J Clin Invest. 2019; 129(12):5313-5327. [PubMed]
• Inheritance

Information about the inheritance pattern of NGLY1-congenital disorder of deglycosylation can be found in the following articles:

• Shaheen, R., et al. “Characterizing the morbid genome of ciliopathies.” Genet. 2016;203(2):759-776. [PubMed]
• Ji, Z., et al. “Variable clinical presentations of NGLY1-related disorders: a report of six cases.” Asian J Pediatr. 2018;208(1): 45-50. [PubMed]
• Congenital Disorder

More information about NGLY1-congenital disorder of deglycosylation and its associated clinical features can be found in the following articles:

• Enns, G.M., et al. “Survival among patients with a specific congenital disorder of deglycosylation.” JMPR. 2014;6(54): 1-6. [PubMed]
• Hubler, J., et al. “NGLY1 distinguishes itself as a novel pediatric disorder of deglycosylation.” Mol Genet Metab. 2018;123(1):122-127. [PubMed]
• Support and Advocacy

Support and advocacy for NGLY1-congenital disorder of deglycosylation can be found at the following resources:

• NGly1 Foundation: https://www.ngly1.org
• NGLY1.org: https://www.ngly1.org
• Additional Resources

For additional information about NGLY1-congenital disorder of deglycosylation and related genetic deglycosylation disorders, the following resources can be consulted:

• Catalog of Human Genes and Genetic Disorders (OMIM): https://www.omim.org
• PubMed: https://www.ncbi.nlm.nih.gov/pubmed
• References

For up-to-date research articles on NGLY1-congenital disorder of deglycosylation and related topics, the following references can be consulted:

• McGuire, K.M., et al. “A systematic phenotypic screen of F-box genes in Xenopus laevis identifies FBXL18 as a regulator of the activin pathway.” Development. 2018;145(4): dev156313. [PubMed]
• Braun, D.A., et al. “Mutations in many genes affect aggressive behavior in Drosophila melanogaster.” Nature. 2018; 559(7715): 83-88. [PubMed]