Mutations underlying 3-Hydroxy-3-Methylglutaryl CoA Lyase deficiency in the Saudi population
<p>Abstract</p> <p>Background</p> <p>3-Hydroxy-3-Methylglutaric aciduria (3HMG, McKusick: 246450) is an autosomal recessive branched chain organic aciduria caused by deficiency of the enzyme 3-Hydroxy-3-Methylglutaryl CoA lyase (HL, HMGCL, EC 4.1.3.4). HL is encoded by...
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| Main Authors: | , , , , |
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| Format: | Book |
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BMC,
2006-12-01T00:00:00Z.
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