Xanthinuria: An Additional Case with Demonstration of Xanthine Oxidase Deficiency
1971; Oxford University Press; Volume: 55; Issue: 3 Linguagem: Inglês
10.1093/ajcp/55.3.351
ISSN1943-7722
AutoresOded Sperling, Uri Liberman, M. Frank, André de Vries,
Tópico(s)Porphyrin Metabolism and Disorders
ResumoAn additional patient with xanthinuria, the ninth on record, is presented. Xanthine oxidase deficiency was proven in the small intestinal mucosa obtained by peroral biopsy. The patient did not have clinical manifestations related to the disorder. Problems of diagnosis and mode of inheritance of this disorder are discussed.
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