A novel Pah-exon1 deleted murine model of phenylalanine hydroxylase (PAH) deficiency

Richards, DY; Winn, SR; Dudley, S; Fedorov, L; Rimann, N; Thony, B; Harding, CO

Harding, CO (corresponding author), 3181 Sw Sam Jackson Pk Rd,Mail Code L103, Portland, OR 97239 USA.

MOLECULAR GENETICS AND METABOLISM, 2020; 131 (3): 306

Abstract

Phenylalanine hydroxylase (PAH) deficiency, colloquially known as phenylketonuria (PKU), is among the most common inborn errors of metabolism and in t......

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