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Clinical features of carbamyl phosphate synthetase-I deficiency in an adult

โœ Scribed by Dr Gregory Call; Alan R. Seay; Richard Sherry; Ijaz A. Qureshi


Publisher
John Wiley and Sons
Year
1984
Tongue
English
Weight
604 KB
Volume
16
Category
Article
ISSN
0364-5134

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Late-onset carbamoyl phosphate synthetas
โœ Timothy R. Bates; Barry D. Lewis; John R. Burnett; Kenji So; Andrew Mitchell; Lu ๐Ÿ“‚ Article ๐Ÿ“… 2011 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 204 KB

Urea cycle disorders (UCDs) are rare causes of hyperammonemic encephalopathy in adults. Most UCDs present in childhood and, if unrecognized, are rapidly fatal. Affected individuals who survive to adulthood may remain undiagnosed because of clinicians' unawareness of the condition or atypical present