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Monocarboxylate Transporter 8 Deficiency: Delayed or Permanent Hypomyelination?
Monocarboxylate transporter 8 (MCT8) deficiency or the Allan-Herndon-Dudley Syndrome (AHDS) is an X-linked psychomotor disability syndrome with around 320 clinical cases described worldwide. SLC16A2 gene mutations, encoding the thyroid hormone (TH) transporter MCT8, result in intellectual disability...
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| Izdano u: | Front Endocrinol (Lausanne) |
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| Glavni autori: | , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Frontiers Media S.A.
2020
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7237703/ https://ncbi.nlm.nih.gov/pubmed/32477268 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fendo.2020.00283 |
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