Aspartylglucosaminuria
Inborn error of metabolism Aspartylglycosaminuria at NIH's Office of Rare Diseases "Aspartylglucosaminuria i". ISMRD - The ... Aspartylglucosaminuria is estimated to affect 1 in 18,500 people in Finland. This condition is less common in other countries, ... Aspartylglucosaminuria is an autosomal recessive genetic condition that is inherited from both parents. The AGU patient is born ... Aspartylglucosaminuria (AGU) is an inherited disease that is characterized by a decline in mental functioning, accompanied by ...
List of OMIM disorder codes
PRPS1 Aspartylglucosaminuria; 208400; AGA Asphyxiating thoracic dystrophy 2; 611263; IFT80 Asphyxiating thoracic dystrophy 3; ...
Aspartylglucosamine
Levels are elevated in aspartylglucosaminuria. PubChem. "N-aspartylglucosamine". pubchem.ncbi.nlm.nih.gov. Retrieved 2023-01-13 ...
Aspartylglucosaminidase
1983). "Aspartylglucosaminuria in the United States". Clin. Genet. 23 (6): 427-35. doi:10.1111/j.1399-0004.1983.tb01977.x. PMID ... 1991). "Aspartylglycosaminuria in the Finnish population: identification of two point mutations in the heavy chain of ... The lysosomal storage disease aspartylglycosaminuria is caused by a deficiency in the AGA enzyme. GRCh38: Ensembl release 89: ... 1991). "Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease". ...
Leukodystrophy
A family with two children diagnosed with aspartylglucosaminuria-case report and literature review]". Zhonghua Er Za Zhi. 52 (6 ...
Fucosidosis
... and Aspartylglycosaminuria". In Rosenberg, Roger N.; Pascual, Juan M. (eds.). Rosenberg's molecular and genetic basis of ...
Finnish heritage disease
... molecular screening for aspartylglucosaminuria (AGU) and infantile neuronal ceroid lipofuscinosis (INCL) in Finland". Prenatal ... Finnish type Lethal arthrogryposis with anterior horn cell disease Aspartylglucosaminuria Autoimmune polyendocrinopathy ...
Galactosialidosis
... aspartylglucosaminuria, fucosidosis, Schindler disease, and sialidosis, amongst other diseases. It is a longitudinal study of ...
Brachycephaly
Alveolar capillary dysplasia with pulmonary venous misalignment Angelman syndrome Antley-Bixler syndrome Aspartylglucosaminuria ...
Glycoproteinosis
Defects in glycoprotein degradation Aspartylglucosaminuria Fucosidosis Mannosidosis Sialidosis (mucolipidosis I) Another type, ...
AGU
... a part of computer processors involved in performing memory accesses Aspartylglucosaminuria, a rare genetic illness a codon for ...
Congenital disorders of amino acid metabolism
Alkaptonuria Aspartylglucosaminuria Branched-chain keto acid dehydrogenase kinase deficiency Methylmalonic acidemia Maple syrup ...
Lysosomal storage disease
Wolman disease Oligosaccharide Alpha-mannosidosis Beta-mannosidosis Aspartylglucosaminuria Fucosidosis Lysosomal transport ...
List of conditions treated with hematopoietic stem cell transplantation
Fucosidosis Aspartylglucosaminuria Alpha-mannosidosis Other Wolman disease (acid lipase deficiency) Immunodeficiencies T-cell ...
List of diseases (A)
Asbestosis Ascariasis Ascher's syndrome Aseptic meningitis Asherman's syndrome Ashman phenomenon Aspartylglycosaminuria ...
Coarse facial features
Acromegaly Alpha-mannosidosis type II Aspartylglycosaminuria Battaglia Neri syndrome Börjeson-Forssman-Lehmann syndrome ...