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Diagnostic analysis, clinical importance and molecular basis of dihydropyrimidine dehydrogenase deficiency

✍ Scribed by F.J. Gonzalez; P. Fernandez-Salguaro


Book ID
117340888
Publisher
Elsevier Science
Year
1995
Tongue
English
Weight
416 KB
Volume
16
Category
Article
ISSN
0165-6147

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We studied 13 patients with lipoamide dehydrogenase (LAD) deficiency, originating from seven Ashkenazi Jewish families. Their disease was characterized by recurrent attacks of vomiting, abdominal pain, and encephalopathy accompanied by elevated liver transaminases, prolonged prothrombin time, and oc