TY - CHAP M1 - Book, Section TI - Sulfocysteinuria A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas Y1 - 2019 N1 - T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e AB - An inborn error of metabolism leading to fatal neurologic disease, severe development delay, and ectopia lentis in children. Infants often present with acute hemiplegia. Clinically manifested by ataxic gait, generalized dystonia, and choreoathetosis. Confirmed by the presence of sulfite in the urine (“strip-test”). SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1164085926 ER -