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Aspartylglucosaminuria

A recessively inherited, progressive lysosomal storage disease caused by a deficiency of GLYCOSYLASPARAGINASE activity. The lack of this enzyme activity results in the accumulation of N-acetylglucosaminylasparagine (the linkage unit of asparagine-linked glycoproteins) in LYSOSOMES.
Also Known As:
AGA Deficiency; Aspartylglucosamidase Deficiency; Aspartylglycosaminuria; Glycoasparaginase Deficiency; AGA Deficiencies; Aspartylglucosamidase Deficiencies; Aspartylglucosaminurias; Aspartylglycosaminurias; Deficiencies, AGA; Deficiencies, Aspartylglucosamidase; Deficiencies, Glycoasparaginase; Deficiency, AGA; Deficiency, Aspartylglucosamidase; Deficiency, Glycoasparaginase; Glycoasparaginase Deficiencies
Networked: 146 relevant articles (2 outcomes, 7 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Mannosidase Deficiency Diseases (Mannosidosis)
2. Fucosidosis
3. Gaucher Disease (Gaucher's Disease)
4. Metachromatic Leukodystrophy (Sulfatide Lipidosis)
5. Globoid Cell Leukodystrophy (Krabbe Disease)

Experts

1. Tikkanen, Ritva: 5 articles (10/2021 - 11/2016)
2. Laine, Minna: 4 articles (01/2021 - 06/2003)
3. Guo, Hwai-Chen: 4 articles (01/2019 - 12/2014)
4. Pande, Suchita: 4 articles (01/2019 - 12/2014)
5. Banning, Antje: 3 articles (10/2021 - 11/2016)
6. Gray, Steven J: 3 articles (01/2021 - 11/2016)
7. Mononen, Ilkka: 3 articles (12/2016 - 01/2005)
8. Jalanko, Anu: 3 articles (06/2006 - 06/2003)
9. Cathey, Sara S: 2 articles (01/2021 - 01/2020)
10. Goodspeed, Kimberly: 2 articles (01/2021 - 12/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Aspartylglucosaminuria:
1. EnzymesIBA
2. Glycoproteins (Glycoprotein)IBA
3. N-acetylglucosaminylasparagineIBA
4. Hexosaminidases (Hexosaminidase)IBA
5. GlycosaminoglycansIBA
6. GlycopeptidesIBA
7. N-Acetylneuraminic Acid (Sialic Acid)IBA
8. Aspartylglucosylaminase (Aspartylglucosaminidase)IBA
9. glycoasparaginesIBA
10. CollagenIBA

Therapies and Procedures

1. Bone Marrow Transplantation (Transplantation, Bone Marrow)
2. Therapeutics
3. Enzyme Replacement Therapy
4. Hematopoietic Stem Cell Transplantation
5. Enzyme Therapy