Decreased urinary excretion of the ectodomain form of megalin (A-megalin) in children with OCRL gene mutations

Suruda, C; Tsuji, S; Yamanouchi, S; Kimata, T; Huan, NT; Kurosawa, H; Hirayama, Y; Tsukaguchi, H; Saito, A; Kaneko, K

Kaneko, K (reprint author), Kansai Med Univ, Dept Pediat, 2-5-1 Shin Machi, Hirakata, Osaka 5731010, Japan.

PEDIATRIC NEPHROLOGY, 2017; 32 (4): 621

Abstract

The oculocerebrorenal syndrome of Lowe gene (OCRL) is located on chromosome Xq25-26 and encodes an inositol polyphosphate-5-phosphatase (OCRL-1). Muta......

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