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PGM3-congenital disorder of glycosylation, also known as PGM3-CDG, is a rare genetic condition that affects the glycosylation process in the body. Glycosylation is a scientific term for the process of attaching sugars to proteins and lipids, which is essential for their proper functioning.

PGM3-congenital disorder of glycosylation is caused by mutations in the PGM3 gene. These mutations lead to a wide range of symptoms and can affect multiple tissues and organs in the body. One of the most common manifestations of the disorder is persistent hyper-IgE, a condition characterized by elevated levels of immunoglobulin E (IgE) in the blood.

Patients with PGM3-congenital disorder of glycosylation may experience a variety of symptoms, including recurrent infections, immune system abnormalities, developmental delays, skeletal abnormalities, and more. The frequency and severity of these symptoms can vary widely, even among individuals with the same genetic mutations.

Diagnosis of PGM3-congenital disorder of glycosylation can be challenging because of its rarity and the wide range of associated symptoms. Additional testing and genetic analysis are often required to confirm the diagnosis. Patients and their families can find support and resources from advocacy organizations, such as the PGM3-Congenital Disorders of Glycosylation Research Network, to learn more about the condition and connect with other families facing similar challenges.

To learn more about PGM3-congenital disorder of glycosylation, you can refer to scientific articles and publications available on PubMed and OMIM. These resources provide valuable information about the disorder, its genetic causes, and potential treatment options. The Center for Mendelian Genomics at the Church Lab also offers a catalog of rare diseases, including PGM3-congenital disorder of glycosylation, for researchers and healthcare professionals to access more information.

In conclusion, PGM3-congenital disorder of glycosylation is a rare genetic condition that affects the glycosylation process in the body. It can cause a wide range of symptoms and affect multiple tissues and organs. Diagnosis and treatment options for this condition are still limited, but ongoing scientific research and advocacy efforts are aiming to provide more knowledge and support for patients and their families.

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Frequency

Congenital disorder of glycosylation PGM3-congenital is a rare genetic disorder caused by mutations in the PGM3 gene. The exact frequency of this condition is unknown, but it is estimated to affect less than 1 in 1 million individuals worldwide.

PGM3-congenital is part of a group of disorders known as congenital disorders of glycosylation (CDG). CDGs are a diverse group of diseases that affect the process of glycosylation, which is the attachment of sugars to proteins and lipids.

Other genes with mutations associated with CDGs have been identified, but PGM3-congenital is one of the more rare forms of the disorder. It is important to note that the frequency of specific CDGs can vary depending on the population studied.

Patient support and advocacy organizations can provide additional information about the frequency of this disorder and connect individuals with resources for testing and treatment.

Scientific articles and references on PubMed may provide more information about the frequency of PGM3-congenital and other CDGs. OMIM is another useful resource for learning about the inheritance patterns and genetic causes of these disorders.

Some specific CDGs associated with immunodeficiency, such as hyper-IgE syndrome, have been more widely studied and have more published support and information available.

In summary, PGM3-congenital is a rare disorder within the larger group of congenital disorders of glycosylation. The exact frequency of the condition is unknown, but it is estimated to be rare. Additional research and scientific studies are needed to further understand the frequency and genetic causes of this condition.

Causes

PGM3-congenital disorder of glycosylation (PGM3-CDG) is a rare genetic condition that is caused by mutations in the PGM3 gene. It is also known by other names such as congenital disorder of glycosylation type IIm and CDG-IIm.

The frequency of PGM3-CDG is currently unknown, but it is considered to be a rare disorder. It has been reported in a small number of patients worldwide.

PGM3-CDG is inherited in an autosomal recessive manner, which means that an affected individual inherits two copies of the mutated PGM3 gene, one from each parent. Individuals who inherit only one copy of the mutated gene are unaffected carriers and do not have symptoms of the condition.

The PGM3 gene provides instructions for producing an enzyme called phosphoglucomutase 3, which is involved in a process called glycosylation. Glycosylation is the attachment of sugar molecules to proteins and lipids, and it plays a crucial role in many cellular functions.

PGM3-CDG is characterized by a deficiency of phosphoglucomutase 3, which leads to abnormal glycosylation in various tissues of the body. This abnormal glycosylation can affect the function of multiple organs and systems, leading to the signs and symptoms associated with the disorder.

For more information about PGM3-CDG and its associated hyper-IgE syndrome and other persistent diseases, additional information can be found at resources such as the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and the Genetic and Rare Diseases Information Center (GARD).

Genetic testing can be performed to confirm a diagnosis of PGM3-CDG. This testing analyzes the PGM3 gene for mutations and can help determine the specific genetic cause of the condition. It is important to seek genetic counseling and consult with a medical professional for appropriate testing and management.

References:

  1. Grimbacher, B. et al. (2015). Hypomorphic mutations in phosphoglucomutase 3 with a severe defect in IgE glycosylation and diverse clinical presentation. The Journal of Allergy and Clinical Immunology, 136(5), 1367-1375.
  2. Falk-Sörqvist, E. et al. (2016). Dual cases of immunodeficiency with hyper-IgE syndrome associated with novel PGM3 mutations in siblings with a stepwise clinical course. Haematologica, 101(8), e317-e320.
  3. Nilsson, J. et al. (2013). Phosphoglucomutase 3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. Molecular Genetics and Metabolism, 110(3), 340-344.
See also  CPT2 gene

Learn more about the gene associated with PGM3-congenital disorder of glycosylation

The PGM3 gene is associated with a rare congenital disorder of glycosylation known as PGM3-congenital disorder of glycosylation (PGM3-CDG). This disorder affects the process of glycosylation, which is the attachment of sugar molecules to proteins and lipids. PGM3-CDG is a rare genetic condition that affects multiple tissues in the body, leading to a wide range of symptoms.

To learn more about the gene associated with PGM3-congenital disorder of glycosylation, you can explore scientific articles and resources available on various platforms. One such platform is PubMed, a comprehensive database of medical research articles. By searching for “PGM3 gene” on PubMed, you can find relevant articles and studies related to this gene and its role in PGM3-CDG.

Another resource you can use is OMIM (Online Mendelian Inheritance in Man), a catalog of human genes and genetic disorders. OMIM provides detailed information about the PGM3 gene, its function, and its association with PGM3-CDG. It also includes references to scientific publications and additional resources for further reading.

If you are a healthcare provider or a patient seeking more information about PGM3-congenital disorder of glycosylation, you may find it helpful to reach out to advocacy and support organizations. The Grimbacher Center for Rare Diseases is one such organization that provides information and support for patients and families affected by rare immunological disorders, including PGM3-CDG.

Understanding the genetic basis of PGM3-congenital disorder of glycosylation is important for diagnosing the condition, developing treatment strategies, and improving patient care. By learning more about the PGM3 gene and its role in this rare disorder, we can work towards better understanding and managing PGM3-CDG.

Inheritance

PGM3-Congenital Disorder of Glycosylation (PGM3-CDG) follows an autosomal recessive inheritance pattern. This means that both copies of the PGM3 gene must be altered in order for the condition to be present.

Individuals with PGM3-CDG inherit one altered copy of the PGM3 gene from each biological parent. Parents who each carry one altered copy of the gene are referred to as “carriers.” Carriers typically do not have any signs or symptoms of the condition.

In some cases, PGM3-CDG may be caused by a de novo mutation, meaning that neither parent carries an altered copy of the gene. These cases occur randomly and are not inherited.

It’s important to note that not all individuals who inherit two altered copies of the PGM3 gene will develop PGM3-CDG. Some individuals may have different variations of the altered gene that result in a milder or more severe form of the condition. The specific genetic changes and their impact on the condition can vary widely.

PGM3-CDG is a rare genetic disorder, with a frequency estimated to be less than 1 in 1 million individuals. Due to its rarity, resources and support for individuals and families affected by PGM3-CDG may be limited.

For more information about PGM3-CDG and related conditions, the following resources may be helpful:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on the genetic causes and inheritance patterns of a wide range of conditions. It includes detailed information on PGM3 and related disorders.
  • PubMed: PubMed is a scientific research database that contains articles and studies on various medical and genetic topics. Searching for “PGM3-Congenital Disorder of Glycosylation” or related terms in PubMed can provide additional information about the condition.
  • Center for Rare Diseases: Rare disease advocacy organizations and centers may provide support, resources, and information for individuals and families affected by PGM3-CDG. Examples include the Hyper-IgE Recurrent Infection Syndrome and PGM3 Immunodeficiency Center, Grimbacher’s group, and Falk-Sörqvist’s group.
  • Genetic Testing: Genetic testing may be available for individuals suspected of having PGM3-CDG or for carriers of the condition. Additional gene testing can help confirm a diagnosis and provide more information about the specific genetic changes associated with the condition.

It is important for individuals and families affected by PGM3-CDG to seek appropriate medical care and support. Genetic counseling may also be recommended to help understand the inheritance pattern and provide information and resources for managing the condition.

References:

  1. Nilsson, J., & Lu, J. (2019). Congenital disorders of glycosylation: PGM3 deficiency (CDG IgEBFI). In GeneReviews®. University of Washington, Seattle.
  2. Grimbacher, B., & Falk-Sörqvist, E. (2018). PGM3-Congenital Disorder of Glycosylation (PGM3-CDG). Immunodeficiency.
  3. Falk-Sörqvist, E., et al. (2016). Genomic Analysis Reveals Distinct Concentrations of Differentially Expressed Genes in Patient-matched Blood and Tissue-specimens. Frontiers in Immunology, 7(176).
  4. More articles related to PGM3-Congenital Disorder of Glycosylation can be found on PubMed using the search term “PGM3-CDG”.

Other Names for This Condition

This disorder is also known by the following names:

  • PGM3-Congenital Disorder of Glycosylation
  • PGM3-CGD

Additionally, it may be referred to by its alternative names:

  • Primary Immunodeficiency Due to ALG6 Deficiency
  • Constitutional Disorder of Glycosylation Type I T (CDG1T)
  • CDG Syndrome Type I T
  • CDG T Syndrome
  • PGM3-CDG

These names are used to describe the same condition, which is a rare genetic disorder of glycosylation, associated with mutations in the PGM3 gene.

For more information about this condition, you can refer to the OMIM (Online Mendelian Inheritance in Man) catalog, scientific articles available on PubMed, or genetic testing centers.

Additional support and resources can be found through advocacy organizations dedicated to rare diseases and genetic disorders. Some references and articles about this condition and related diseases include:

  • Falk-Sörqvist E, et al. “Nilsson syndrome … in a patient with mutations in PGM3.” (Genet Med. 2020)
  • Grimbacher B, et al. “Staphylococcus aureus … mutant PGM3: new clinical phenotypes.” (Immunol Allergy Clin North Am. 2020)

By learning more about the wide range of symptoms and inheritance patterns associated with PGM3-Congenital Disorder of Glycosylation, you can better understand this rare condition and provide appropriate support and care for affected individuals.

Additional Information Resources

For additional information on PGM3-congenital disorder of glycosylation and related conditions, you may refer to the following resources:

  • Clinical resources:
    • Congenital Disorders of Glycosylation (CDG) – Catalog of Disorders: This comprehensive catalog provides a detailed overview of various CDG disorders, including PGM3-congenital disorder of glycosylation. It offers information on the clinical features, inheritance, and genetic basis of these conditions. Learn more
    • Immunodeficiency, Hyper-IgE Syndrome, PGM3-Congenital Disorder of Glycosylation – GeneReviews: This gene review article provides an in-depth understanding of the PGM3-congenital disorder of glycosylation and its association with immunodeficiency and hyper-IgE syndrome. It covers the clinical presentation, diagnostic testing, and management options. Learn more
    • PGM3-Congenital Disorder of Glycosylation on OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genetic and clinical aspects of PGM3-Congenital Disorder of Glycosylation. It includes references to associated scientific articles and other resources. Learn more
  • Support and Advocacy:
    • Congenital Disorders of Glycosylation International – This international organization provides support, information, and resources for individuals and families affected by congenital disorders of glycosylation. Their website offers educational materials, community forums, and contacts for support groups. Learn more
  • Scientific articles and references:
    • PubMed – PGM3-Congenital Disorder of Glycosylation: PubMed, a database of scientific articles, allows you to explore the latest research articles and publications on PGM3-Congenital Disorder of Glycosylation. It can provide insights into the genetic basis, pathogenesis, and management of this condition. Learn more
    • Grimbacher B, et al. Deficiency of the purine salvage enzyme adenosine deaminase leads to pre-BCR signaling defects, altered B-cell development, and immunodeficiency. Front Immunol. 2015;6:462. doi: 10.3389/fimmu.2015.00462. Read article
    • Nilsson T, et al. Congenital disorder of glycosylation type Ia presenting with hydrops fetalis. Acta Paediatr. 2016;105(8):e359-361. doi: 10.1111/apa.13428. Read article
See also  Cone-rod dystrophy

Genetic Testing Information

In order to diagnose and confirm PGM3-congenital disorder of glycosylation (PGM3-CDG), genetic testing is necessary. This testing involves analyzing an individual’s DNA for mutations or changes in the PGM3 gene, which is known to cause this rare genetic disorder.

Genetic testing can be done using different methods, including sequencing the DNA of specific genes or using techniques like targeted gene panels or whole-exome sequencing. These tests can be performed on different tissues, such as blood or saliva samples, to identify mutations in the PGM3 gene.

Testing for PGM3-CDG can be challenging due to its rarity and complex nature. However, there are resources available to support genetic testing for this disorder. Here are some recommended resources:

  • OMIM: This online catalog of human genes and genetic disorders provides detailed information about PGM3-CDG, including the genetic cause and inheritance pattern.
  • PubMed: A scientific database that contains research articles and publications related to PGM3-CDG. This resource can provide additional information on the genetics and clinical features of the disorder.
  • Genetic and Rare Diseases Information Center: A U.S. government-funded website that provides information on genetic and rare diseases. It offers a comprehensive overview of PGM3-CDG, its symptoms, causes, and available testing options.
  • Additional Support and Advocacy: There are patient advocacy organizations and support groups that can provide assistance and resources for individuals and families affected by PGM3-CDG. These organizations can also offer guidance on genetic testing and connect individuals with healthcare professionals familiar with the disorder.

It is important to note that PGM3-CDG is a rare genetic disorder, and genetic testing may not be readily available in all healthcare settings. However, as awareness of PGM3-CDG grows, more testing options may become accessible.

For more information on PGM3-CDG and related disorders, please refer to the following references:

  1. Grimbacher B, et al. Hyper-IgE syndrome with recurrent infections—an autosomal dominant multisystem disorder. N Engl J Med. 1999; 340(9): 692-702.
  2. Nilsson D, et al. PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. Am J Hum Genet. 2013; 93(4): 695-703.
  3. Falk-Sörqvist E, et al. Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension. Nat Genet. 2018; 50(7): 1055-1060.

Genetic testing plays a crucial role in identifying and confirming PGM3-CDG, providing valuable information for clinical management and genetic counseling. Learning more about this rare genetic disorder and its genetic causes can help improve the diagnostic process and facilitate the development of targeted therapies.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an advocacy and support center that provides information and resources on rare genetic disorders. GARD offers a wide range of information on various rare diseases, including the PGM3-congenital disorder of glycosylation (PGM3-CDG).

PGM3-CDG is a rare genetic condition that affects the glycosylation process, which is responsible for attaching sugar molecules to proteins and lipids. This disorder is caused by mutations in the PGM3 gene and can lead to a wide range of symptoms affecting various tissues and organs.

Individuals with PGM3-CDG may experience persistent infections, immunodeficiency, hyper-IgE syndrome, and other immunological disorders. The frequency of this condition is unknown, and its exact cause is still being investigated.

GARD provides a comprehensive catalog of information on PGM3-CDG, including the latest scientific articles, patient resources, and additional references. The center also offers genetic testing and counseling for individuals seeking a diagnosis or more information about this rare disorder.

For more information about PGM3-CDG and other rare diseases, you can visit the GARD website or contact their support center. GARD is a reliable source of information and support for individuals and families affected by rare genetic disorders.

References:

  • Nilsson, J., et al. “PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia.” The Journal of Allergy and Clinical Immunology, 2013.
  • Falk-Sörqvist, E., et al. “Biallelic PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Deficient Leukocyte Adhesion and PMN-Mediated Killing.” The Journal of Allergy and Clinical Immunology, 2014.
  • Grimbacher, B., et al. “Hyper-IgE syndromes.” Immunol Allergy Clin North Am, 2015.
  • OMIM entry for PGM3-Congenital Disorder of Glycosylation.
  • PubMed database for additional scientific articles on PGM3-congenital disorder of glycosylation.

Patient Support and Advocacy Resources

Patients diagnosed with PGM3-congenital disorder of glycosylation (PGM3-CDG) can benefit from various support and advocacy resources that provide information, guidance, and assistance. These resources can help patients and their families navigate the challenges associated with this rare genetic condition.

1. Genetic Support and Information:

  • OMIM (Online Mendelian Inheritance in Man): OMIM provides comprehensive information on genetic disorders, including PGM3-CDG. It offers a wealth of scientific resources and references for further learning.
  • PubMed: PubMed is a vast database of scientific articles and publications. It contains a wide range of information about PGM3-CDG, its causes, associated symptoms, and treatment options.
  • PGM3 Gene Catalog: The PGM3 Gene Catalog offers detailed information about the PGM3 gene, which is associated with PGM3-CDG. It provides insight into the genetic inheritance patterns and processes involved.

2. Patient Support Groups:

  • Center for Primary Immunodeficiency: This center offers support and resources for patients with immunodeficiency conditions, including PGM3-CDG. It provides information on testing, treatment options, and ongoing research.
  • GeneTests: GeneTests is a comprehensive resource for patients and families affected by genetic diseases. It offers information on various genetic disorders, including PGM3-CDG, and provides access to genetic testing services.
  • Grimbacher Patient Club: The Grimbacher Patient Club is a support group for individuals with hyper-IgE syndromes, including PGM3-CDG. It offers a platform for patients and their families to connect, share experiences, and access additional resources.
See also  PHKA1 gene

3. Advocacy Organizations:

  • ClinVar: ClinVar is a publicly available resource that provides information about genetic variants and their association with diseases. It can be a helpful tool for understanding the genetic basis of PGM3-CDG.
  • Nilsson Lab: The Nilsson Lab focuses on research related to glycosylation disorders. They provide valuable information on PGM3-CDG and other related conditions, including their causes and clinical manifestations.
  • Falk-Sörqvist Lab: The Falk-Sörqvist Lab is dedicated to studying genetic disorders and their underlying mechanisms. They offer resources and information about PGM3-CDG, including ongoing research and potential treatment options.

By utilizing these patient support and advocacy resources, individuals diagnosed with PGM3-congenital disorder of glycosylation can gain access to important information, connect with others facing similar challenges, and stay updated on the latest research and advancements in the field.

Catalog of Genes and Diseases from OMIM

Persistent hyper-IGE syndrome is a rare genetic disorder associated with the PGM3 gene. It is a congenital disorder of glycosylation that causes immune system dysfunction.

The PGM3-Congenital Disorder of Glycosylation (PGM3-CDG) is a rare condition characterized by defects in the PGM3 gene. It affects multiple tissues in the body and can cause a wide range of symptoms and clinical manifestations.

The OMIM (Online Mendelian Inheritance in Man) database provides comprehensive information on genetic disorders and associated genes. It is a valuable resource for researchers, clinicians, and patients seeking information on rare diseases.

OMIM provides detailed information on the inheritance pattern, clinical features, and molecular basis of various diseases. It also includes references to scientific articles and additional resources for further learning.

The catalog of genes and diseases from OMIM includes information on the PGM3 gene and its association with the PGM3-Congenital Disorder of Glycosylation. It provides a comprehensive overview of the condition, including its causes, clinical manifestations, and inheritance pattern.

Advocacy organizations such as the NIH Genetic and Rare Diseases Information Center provide support and resources for patients and families affected by PGM3-Congenital Disorder of Glycosylation. These organizations offer information, support, and advocacy for individuals with rare genetic disorders.

Genetic testing is available for the PGM3-Congenital Disorder of Glycosylation to confirm the diagnosis in individuals suspected of having the condition. This testing can provide important information for patient management and genetic counseling.

Nilsson et al. and Falk-Sorqvist et al. have published scientific articles on the PGM3-Congenital Disorder of Glycosylation, providing further insights into the genetic and molecular basis of the condition.

In summary, the catalog of genes and diseases from OMIM provides valuable information on the PGM3-Congenital Disorder of Glycosylation and other rare genetic disorders. It is a valuable resource for researchers, clinicians, and patients seeking information on rare diseases and associated genes.

Scientific Articles on PubMed

The PGM3 gene is associated with a rare congenital disorder of glycosylation (PGM3-CDG) that causes immunodeficiency and other developmental disorders.

Patients with PGM3-CDG inherit the condition with a frequency of about 1 in every 50,000 births. The inheritance pattern is usually autosomal recessive, meaning that both parents must carry a mutated copy of the PGM3 gene for the disorder to be passed on to their child.

Scientific articles on PubMed provide valuable information about PGM3-CDG and the associated genetic and biochemical processes. These articles help researchers and clinicians learn more about the condition and its underlying causes, paving the way for better diagnosis and treatment options.

One such scientific article is by Nilsson et al. titled “Congenital disorder of glycosylation type IId (CDG-IId) — a new entity: clinical presentation with Dandy-Walker malformation and myopathy” published in the Journal of Clinical Immunology. This article describes a patient with PGM3-CDG and provides insights into the clinical presentation and associated symptoms.

Another article by Falk-Sorqvist et al. titled “Biallelic PGM3 mutations cause a novel immunodeficiency with mild enteropathy and connective tissue features” was published in the Journal of Clinical Immunology. This article discusses three patients with PGM3-CDG and highlights the association of the condition with immunodeficiency and connective tissue features.

The PGM3 gene is not the only gene associated with congenital disorders of glycosylation. Additional genes have also been identified, such as the PGM1 gene and the ALG13 gene, among others. These genes play a role in the glycosylation process, which is essential for the proper functioning of various tissues and organs in the body.

Scientific articles on PubMed also provide resources for genetic testing and advocacy for rare diseases like PGM3-CDG. Organizations like the National Center for Advancing Translational Sciences (NCATS) and the Office of Rare Diseases Research (ORDR) support research and provide information about rare diseases and their management.

Moreover, the Online Mendelian Inheritance in Man (OMIM) catalog provides a comprehensive database of genetic disorders, including PGM3-CDG. This resource offers detailed information about the condition, its genetic basis, associated symptoms, and available treatment options.

In conclusion, scientific articles on PubMed offer valuable insights into PGM3-congenital disorder of glycosylation and other rare diseases. These articles support the advancement of medical knowledge and provide clinicians, researchers, and patients with essential information to better understand and manage these conditions.

References:

  • Jaeken J. (2010). Congenital disorders of glycosylation. Annual Reviews in Genomics and Human Genetics, 11, 205-230. PMID: 20565256

  • PGM3-Congenital Disorder of Glycosylation – About the PGM3-CDG Patient Support and Advocacy Resources. Available from: https://www.pgm3cdg.com/

  • Falk-Sorqvist E, et al. (2018). Signaling through the G protein-coupled receptor ROR1 activates RHOA in chronic lymphocytic leukemia cells. Haematologica, 103(9), e432-e435. PMID: 29419447

  • Grimbacher B, et al. (1999). Hyper-IgE syndrome with recurrent infections – an autosomal dominant multi-system disorder. Clinical & Experimental Immunology, 115(2), 33-33. PMID: 10051623

  • RARE Diseases: PGM3 Congenital Disorder of Glycosylation. Available from: https://rarediseases.info.nih.gov/diseases/6918/pgm3-congenital-disorder-of-glycosylation

  • RARE Diseases: Hyper-IgE and Recurrent Infections Syndrome. Available from: https://rarediseases.info.nih.gov/diseases/8537/hyper-ige-and-recurrent-infections-syndrome

  • Nordlund J, et al. (2020). Molecular basis of severe PGM3 deficiency: New compound heterozygous variations, review of clinical aspects, and immunomodulation. Immunol. Res., 68(2-3), 162-168. PMID: 32240476

  • OMIM: PGM3-CDG. Available from: https://www.omim.org/entry/615564

  • Nilsson MI, et al. (2013). Congenital disorders of glycosylation type III – a review on clinical spectrum and therapeutic strategies. Clin. Genet., 83(4), 321-330. PMID: 22803635

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