Arginase 1 Deficiency in Patients Initially Diagnosed with Hereditary Spastic Paraplegia
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DOI: 10.1002/mdc3.13612
Abstract: Arginase 1 Deficiency (ARG1‐D) is a rare autosomal recessive urea cycle disorder (UCD) characterized by pathologic elevation of plasma arginine and debilitating manifestations. Based on clinical commonalities and low disease awareness, ARG1‐D can be diagnosed… read more here.
Keywords: diagnosed hereditary; hereditary spastic; spastic paraplegia; arginase deficiency ... See more keywords