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Ornithine carbamoyltransferase deficiency. A new variant with subnormal enzyme activity

✍ Scribed by D. Rabier; A. Benoit; F. Petit; A. Chekoury; J.P. Bonnefont; J.M. Saudubray; P. Kamoun


Book ID
115826534
Publisher
Elsevier Science
Year
1989
Tongue
English
Weight
336 KB
Volume
186
Category
Article
ISSN
0009-8981

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Type IV glycogenosis is due to branching enzyme deficiency and is usually manifested clinically by progressive liver disease with cirrhosis and hepatic failure between the second and fourth years of life. We describe a 6-year-old boy who, following an acute febrile illness at 2 years of age, was fir