نتایج جستجو برای: menkes

تعداد نتایج: 1314  

Journal: :Pediatric Neurology Briefs 1993

Journal: :AJNR. American journal of neuroradiology 2017
R Manara M C Rocco L D'agata R Cusmai E Freri L Giordano F Darra E Procopio I Toldo C Peruzzi R Vittorini A Spalice C Fusco M Nosadini D Longo S Sartori

This is the second part of a retrospective and review MR imaging study aiming to define the frequency rate, timing, imaging features, and evolution of gray matter changes in Menkes disease, a rare multisystem X-linked disorder of copper metabolism characterized by early, severe, and progressive neurologic involvement. According to our analysis, neurodegenerative changes and focal basal ganglia ...

Journal: :International Journal of Pediatric Otorhinolaryngology 2007

Journal: :Archives of Disease in Childhood 2006

Journal: :Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 2003

Journal: :Journal of Nepal Paediatric Society 2016

Journal: :Pediatric Neurology Briefs 1991

Journal: :JPMA. The Journal of the Pakistan Medical Association 2017
Sidra Kaleem Jafri Raman Kumar Shazia Kulsoom Lashari Prem Chand

Menkes disease (MD) (OMIM: 309400) is also known as kinky hair disease, trichopoliodystrophy, and steely hair. A 7-months-old, male infant presented to our outpatient department in June 2016 with history of developmental delay and seizures. Seizures started at 3 months of age and worsened progressively to clusters of extensor spasms. Physical examination showed sparse and kinky hair. Neurologic...

Journal: :Arquivos Brasileiros de Oftalmologia 1997

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