| 概要 |
Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development (CASGID) is an inborn error of metabolism caused by a glutaminase (GLS) hyperactivity variant, the enzyme converting glutamine into glutamate.
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| 著者 |
Rumping L, Tessadori F, Pouwels PJW, Vringer E, Wijnen JP, Bhogal AA, Savelberg SMC, Duran KJ, Bakkers MJG, Ramos RJJ, Schellekens PAW, Kroes HY, Klomp DWJ, Black GCM, Taylor RL, Bakkers JPW, Prinsen HCMT, van der Knaap MS, Dansen TB, Rehmann H, Zwartkruis FJT, Houwen RHJ, van Haaften G, Verhoeven-Duif NM, Jans JJM, van Hasselt PM |
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