Esitystapa käsitteiden/termien suhteille:
Näytä käsitteiden/termien suhteet:
Näytä käsitteiden/termien suhteet:
Homokystinuria
Laajemmat termit: | ∟ ∟ ∟ ∟ ∟ ∟ Homokystinuria ∟ ∟ ∟ Homokystinuria ∟ ∟ ∟ ∟ ∟ Homokystinuria ∟ ∟ ∟ ∟ ∟ Homokystinuria ∟ ∟ ∟ ∟ ∟ Homokystinuria ∟ ∟ ∟ ∟ ∟ Homokystinuria ∟ ∟ ∟ ∟ ∟ Homokystinuria |
historyNote*: | 1969(1967)
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Huomautus: | Amino Acid Metabolism, Inborn Errors (1966) Mental Retardation (1966) |
Huomautus: | An autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall, slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varis, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)
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publicMeSHNote*: | 1969
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activeMeSHYear*: | 2007 |
dateCreated*: | 1999-01-01 |
dateEstablished*: | 1969-01-01 |
dateRevised*: | 2006-07-05 |
recordAuthorizer*: | sjn |
recordMaintainer*: | lkt |
recordOriginator*: | NLM |
Rinnakkaistermi: | |
Tyyppi: | |
Vierustermit: | |
URI: | |
Nimikkeet ja vastaavat käsitteet: | Homokystiinivirtsaisuus (fi, korvattu) Homocystinuri (sv) Homocystinuria (en) Deficiency Disease, Cystathionine beta-Synthase (en, korvattu) Homocystinuria (la-FI, korvattu) |
Jaa: |
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