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REYE'S SYNDROME DUE TO A NOVEL PROTEIN-TOLERANT VARIANT OF ORNITHINE-TRANSCARBAMYLASE DEFICIENCY

✍ Scribed by THALER, M


Book ID
122995807
Publisher
The Lancet
Year
1974
Tongue
English
Weight
420 KB
Volume
304
Category
Article
ISSN
0140-6736

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Clinical and biochemical heterogeneity i
✍ Ahrens, Mary J.; Berry, Susan A.; Whitley, Chester B.; Markowitz, Dorothy J.; Pl πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 395 KB πŸ‘ 2 views

A large family with ornithine transcarbamylase deficiency due to mutation R141Q was ascertained through a propositus who presented with acute neonatal hyperammonemic coma. Of 13 females at risk, 11 were evaluated clinically and had laboratory studies performed. Seven were found to be heterozygous fo