Hyperphenylalaninemia syndromes: Current status of diagnosis and management.

スポンサーリンク

概要

• 論文の詳細を見る

• The phenylalanine hydroxylating system and its related disorders have been intensely investigated during the past decade. This article discusses on some of the newer developments in the study of the physiology and pathophysiology of human phenylalanine metabolism: 1) the phenylalanine hydroxylating system, 2) the early diagnosis of hyperphenylalaninemia syndromes, 3) the molecular basis for phenotypic heterogeneity of phenylketonuria, 4) the prenatal diagnosis of phenylketonuria, and 5) hyperphenylalaninemia caused by defects in tetrahydrobiopterin metabolism.

• The Keio Journal of Medicineの論文

著者

• 松尾 宣武

  Department of Pediatrics, School of Medicine, Keio University

関連論文

• A 27-year-old Woman with Alstrom Syndrome Who Had Liver Cirrhosis
• The diagnosis of hyperinsulinism in a child in the absence of hyperinsulinemia.
• Hyperphenylalaninemia syndromes: Current status of diagnosis and management.

スポンサーリンク