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      "text": "The patient presented with manifestations and medical history consistent with ARG1-D but also common in cerebral palsy, which was initially suspected. Short stature and a complex clinical profile prompted further evaluation, and the patient was quickly and definitively diagnosed with ARG1-D through biochemical and genetic testing\nChronic high arginine is known to lead to progression of cognitive and neuromuscular manifestations in ARG1-D. Occurrence of acute clinical deterioration associated with transient increases in plasma arginine further demonstrates the role of arginine as the driver of these manifestations\nEarly diagnosis and initiation of treatment to lower plasma arginine is critical for decreasing or delaying progressive worsening of manifestations\nThe current standard of care does not adequately lower plasma arginine, as illustrated by persistent high levels and continued progression for this patient, and there is an urgent need for more effective interventions",
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      "text": "1. Huemer M, et al. J Inherit Metab Dis. 2016;39:331–340. 2. Haberle J et al J Inherit Metab Dis. 2019;42:1192-1230. 3. Diez-Fernandez C, et al. Hum Mutat. 2018;39:1029–1050.",
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