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Purification of 6-pyruvoyl-tetrahydropterin synthase from human liver

โœ Scribed by S. Takikawa; H.-Ch. Curtius; U. Redweik; S. Ghisla

Book ID
117057256
Publisher
Elsevier Science
Year
1986
Tongue
English
Weight
633 KB
Volume
134
Category
Article
ISSN
0006-291X

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๐Ÿ“œ SIMILAR VOLUMES

Hyperphenylalaninemia due to deficiency
Hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase
โœ C. R. Scriver; C. L. Clow; P. Kaplan; A. Niederwieser ๐Ÿ“‚ Article ๐Ÿ“… 1987 ๐Ÿ› Springer ๐ŸŒ English โš– 461 KB

We have identified deficient biopterin synthesis in four probands and one sib with persistent postnatal hyperphenylalaninemia. The metabolic findings were associated with a benign clinical presentation and normal biopterin level in cerebrospinal fluid in the newborn period, indicating the peripheral