Homocystinuria: Literature Review and Clinical Case Description
Homocystinuria is rare autosomal-recessive monogenic disorder associated with disturbance of methionine metabolism due to liver enzyme cystathionine--synthetase (CBS) deficit. That in turn causes elevated concentration of homocystein and its metabolites in blood and urine. The main clinical manifest...
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| Main Authors: | , , |
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| Format: | Book |
| Published: |
"Paediatrician" Publishers LLC,
2019-09-01T00:00:00Z.
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Internet
Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
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| Copy 1 | Available |