Adult male patient with severe intellectual disability caused by a homozygous mutation in the HNMT gene

Histamine is involved in various physiological functions like sleep–wake cycle and stress regulation. The histamine N-methyltransferase (HNMT) enzyme is the only pathway for termination of histamine neurotransmission in the central nervous system. Experiments with HNMT knockout mice generated aggres...

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Detalles Bibliográficos
Autores principales: Verhoeven, Willem M A, Egger, Jos I M, Janssen, Paddy K C, van Haeringen, Arie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2020
Materias:
Rare Disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7735107/
https://www.ncbi.nlm.nih.gov/pubmed/33310825
http://dx.doi.org/10.1136/bcr-2020-235972

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7735107/
https://www.ncbi.nlm.nih.gov/pubmed/33310825
http://dx.doi.org/10.1136/bcr-2020-235972

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