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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Detalles Bibliográficos
Autores principales: Vancamp, Pieter, Demeneix, Barbara A., Remaud, Sylvie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7237703/
https://www.ncbi.nlm.nih.gov/pubmed/32477268
http://dx.doi.org/10.3389/fendo.2020.00283

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7237703/
https://www.ncbi.nlm.nih.gov/pubmed/32477268
http://dx.doi.org/10.3389/fendo.2020.00283

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