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Results 21 - 30 of 51 for Congenital disorder of glycosylation
  1. SLC35A2 gene 
    ... SLC35A2 gene have been found to cause SLC35A2-congenital disorder of glycosylation (SLC35A2-CDG). SLC35A2-CDG is an inherited condition ... of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. Am J Hum Genet. 2013 Apr 4;92( ...
    https://medlineplus.gov/genetics/gene/slc35a2 - Genetics
  2. COG5 gene 
    ... the COG5 gene are known to cause COG5-congenital disorder of glycosylation (COG5-CDG). This condition often leads to developmental ...
    https://medlineplus.gov/genetics/gene/cog5 - Genetics
  3. Where can I read more about the diseases and traits covered in my direct-to-consumer genetic testing report?: ... 
    ... disease Beta thalassemia Bloom syndrome Canavan disease PMM2 -congenital disorder of glycosylation , also called PMM2 -CDG Cystic fibrosis D-bifunctional ...
    https://medlineplus.gov/.../dtcgenetictesting/dtcghrpages - Genetics
  4. Genetic Brain Disorders (National Library of Medicine)  
    A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. ...
    https://medlineplus.gov/geneticbraindisorders.html - Health Topics
  5. Immune System and Disorders (National Library of Medicine)  
    What is the immune system? Your immune system is a complex network of cells, tissues, and organs. Together they help the body fight infections and other ...
    https://medlineplus.gov/immunesystemanddisorders.html - Health Topics
  6. Epilepsy of infancy with migrating focal seizures 
    ... been associated with a group of disorders called congenital disorders of glycosylation (CDGs). CDGs are genetic conditions that affect a ...
    https://medlineplus.gov/...-of-infancy-with-migrating-focal-seizures - Genetics
  7. Peters plus syndrome 
    ... Hofsteenge J. Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type ...
    https://medlineplus.gov/genetics/condition/peters-plus-syndrome - Genetics
  8. COG4 gene 
    ... been found to cause a condition called COG4-congenital disorder of glycosylation (COG4-CDG). This condition often leads to developmental ...
    https://medlineplus.gov/genetics/gene/cog4 - Genetics
  9. Fukuyama congenital muscular dystrophy 
    ... Feb. Citation on PubMed Martin PT. Mechanisms of disease: congenital muscular dystrophies-glycosylation takes center stage. Nat Clin Pract Neurol. 2006 ...
    https://medlineplus.gov/.../fukuyama-congenital-muscular-dystrophy - Genetics
  10. Chronic Granulomatous Disease (CGD) Video From the National Institutes of Health (National Institute of Allergy and Infectious Diseases)  
    ... APS-1 (APECED) CARD9 Chronic Granulomatous Disease (CGD) Congenital Neutropenia Syndromes Common Variable Immunodeficiency (CVID) CTLA4 Deficiency DOCK8 Deficiency Glycosylation Disorders with Immunodeficiency Hyper-Immunoglobulin E Syndromes (HIES) PI3 ...
    https://www.niaid.nih.gov/.../chronic-granulomatous-disease-cgd - Videos
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