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Arginase 1 Deficiency in Patients Initially Diagnosed with Hereditary Spastic Paraplegia
BACKGROUND: 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 as hereditary spastic parapl...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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John Wiley & Sons, Inc.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9847303/ https://www.ncbi.nlm.nih.gov/pubmed/36698992 http://dx.doi.org/10.1002/mdc3.13612 |