Movement Disorders in PURA Syndrome: A Video Case Series.

Autor: Crippa, Ana C.S.¹ (AUTHOR) anaccrippa@gmail.com, Bacheladenski, Eli Paula¹ (AUTHOR), Rodrigues, Danielle C.B.¹ (AUTHOR), Ferreira, Letícia Pugim¹ (AUTHOR), Meira, Alex T.² (AUTHOR), Franklin, Gustavo L.³ (AUTHOR)

Publikováno v: Movement Disorders Clinical Practice. Oct2023, Vol. 10 Issue 10, p1542-1546. 5p.

Doença de Menkes: relato de caso

Autor: Agertt,Fabio, Crippa,Ana C.S., Lorenzoni,Paulo J., Scola,Rosana H., Bruck,Isac, Paola,Luciano de, Silvado,Carlos E., Werneck,Lineu C.

Publikováno v: Arquivos de Neuro-Psiquiatria, Volume: 65, Issue: 1, Pages: 157-160, Published: MAR 2007
Arquivos de Neuro-Psiquiatria v.65 n.1 2007
Arquivos de neuro-psiquiatria
Academia Brasileira de Neurologia
instacron:ABNEURO

Menkes’ disease is a rare neurodegenerative disorder due to an intracellular defect of a copper transport protein. We describe a 7 months male patient who presented with seizures, hypoactivity and absence of visual contact. The investigation disclo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::7917f8e2c71afe5f6e64dbd38b3b6732
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2007000100032&lng=en&tlng=en