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Two Rare Cases of Long Surviving Riboflavin Transporter Deficiency with Co-Existing Adenosine Monophosphate Deaminase (AMP) Deficiency
(1) Background: Riboflavin transporter deficiency (RTD), formerly known as Brown–Vialetto–Van Laere syndrome, is a rare condition that causes a progressive neurological syndrome in early life with features of auditory and optic neuropathy, weakness of bulbar muscles and the diaphragm and sensorimoto...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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MDPI
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9775375/ https://www.ncbi.nlm.nih.gov/pubmed/36552065 http://dx.doi.org/10.3390/brainsci12121605 |