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Descritor em português: | Aspartilglucosaminúria | ||||||
Descritor em inglês: | Aspartylglucosaminuria | ||||||
Descritor em espanhol: |
Aspartilglucosaminuria
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Descritor em francês: | Aspartylglucosaminurie | ||||||
Termo(s) alternativo(s): |
AGA Deficiencies AGA Deficiency Aspartylglucosamidase Deficiencies Aspartylglucosamidase Deficiency Aspartylglucosaminurias Aspartylglycosaminuria Aspartylglycosaminurias Deficiencies, AGA Deficiencies, Aspartylglucosamidase Deficiencies, Glycoasparaginase Deficiency, AGA Deficiency, Aspartylglucosamidase Deficiency, Glycoasparaginase Glycoasparaginase Deficiencies Glycoasparaginase Deficiency |
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Código(s) hierárquico(s): |
C16.320.565.595.100 C18.452.648.595.100 |
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Identificador Único RDF: | https://id.nlm.nih.gov/mesh/D054880 | ||||||
Nota de escopo: | 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. |
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Qualificadores permitidos: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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Indexação Anterior: |
Aspartylglucosylaminase (1975-2008) |
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Nota MeSH pública: | 2009 |
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Nota histórica: | 2009 |
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Identificador DeCS: | 53102 | ||||||
ID do descritor: | D054880 | ||||||
Documentos indexados na Biblioteca Virtual em Saúde (BVS): | Clique aqui para acessar os documentos da BVS | ||||||
Data de estabelecimento: | 01/01/2009 | ||||||
Data de entrada: | 08/07/2008 | ||||||
Data de revisão: | 14/06/2018 |
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Aspartylglucosaminuria
- Conceito preferido
Identificador do conceito |
M0508590 |
Nota de escopo | 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. |
Termo preferido | Aspartylglucosaminuria |
Termo(s) alternativo(s) |
AGA Deficiencies AGA Deficiency Aspartylglucosamidase Deficiencies Aspartylglucosamidase Deficiency Aspartylglucosaminurias Aspartylglycosaminuria Aspartylglycosaminurias Deficiencies, AGA Deficiencies, Aspartylglucosamidase Deficiencies, Glycoasparaginase Deficiency, AGA Deficiency, Aspartylglucosamidase Deficiency, Glycoasparaginase Glycoasparaginase Deficiencies Glycoasparaginase Deficiency |
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