Arginase 1 deficiency: a treatable form of spastic paraplegia
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DOI: 10.1007/s10072-025-08153-3
Abstract: Arginase 1 deficiency (ARG1-D) is a rare hereditary urea cycle disorder characterized by elevated arginine levels, resulting in progressive neurological impairment and severe physical and cognitive disability. Due to its low prevalence, overlapping symptoms with… read more here.
Keywords: arginase deficiency; paraplegia; treatable form; deficiency treatable ... See more keywords
Guanidinoacetate Methyltransferase Deficiency: A Treatable Cause of Developmental Delay Diagnosed by Magnetic Resonance Spectroscopy
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DOI: 10.4103/aian.aian_597_22
Abstract: RefeRences 1. Kim JS, Yoon B, Choi KD, Oh SY, Park SH, Kim BK. Upbeat nystagmus: clinicoanatomical correlations in 15 patients. J Clin Neurol 2006;2:58‐65. 2. Daroff RB, Troost BT. Upbeat Nystagmus. JAMA 1973;225:312. 3.… read more here.
Keywords: upbeat nystagmus; neurology; deficiency treatable; spectroscopy ... See more keywords