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...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2022-11-01
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| Series: | Brain Sciences |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2076-3425/12/12/1605 |