Hypermanganesemia with Dystonia Type 2: A Potentially Treatable Neurodegenerative Disorder: A Case Series in a Tertiary University Hospital

Importance: Hypermanganesemia with dystonia type 2 is a rare autosomal recessive neurodegenerative disorder characterized by the loss of previously acquired milestones, dystonia, parkinsonian features, a high serum manganese level, and characteristic neuroimaging findings such as bilateral and symme...

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Principais autores:	Khalid A. Alhasan, Walaa Alshuaibi, Muddathir H. Hamad, Suha Salim, Dima Z. Jamjoom, Aqeela H. Alhashim, Malak Ali AlGhamdi, Amal Y. Kentab, Fahad A. Bashiri
Formato:	Artigo
Idioma:	Inglês
Publicado em:	MDPI AG 2022-09-01
Colecção:	Children
Assuntos:	hypermanganesemia dystonia chelation therapy <i>SLC39A14</i> gene movement disorders neurodegenerative disorders
Acesso em linha:	https://www.mdpi.com/2227-9067/9/9/1335
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