نتایج جستجو برای: neurometabolic disorders

تعداد نتایج: 671446  

Journal: :Iranian journal of child neurology 2016
Parvaneh Karimzadeh Narjes Jafari Habibe Nejad Biglari Sayena Jabbehdari Mehdi Alizadeh Ghazal Alizadeh Hamid Nejad Biglari Sara Sanii

OBJECTIVE Adrenoleukodystrophy disorder is one of the x-linked genetic disorders caused by the myelin sheath breakdown in the brain. In this study, we present 4 yr experience on this disorder. MATERIALS & METHODS The patients diagnosed as adrenoleukodystrophy in the Neurology Department of Mofid Children's Hospital in Tehran, Iran from 2010 to 2014 were enrolled into the study. The disorder w...

2008
N. Braakman F. Kara M. A. van Buchem R. Schliebs H. J. de Groot A. Alia

Introduction Currently a definitive diagnosis of Alzheimer’s disease (AD) is only possible postmortem, by detecting the two hallmarks of the disease: amyloid plaques and neurofibrillary tangles in the brain tissue. There is thus a great need for in vivo biomarkers to diagnose AD with high specificity and sensitivity. Proton magnetic resonance spectroscopy (H MRS) provides a non-invasive way to ...

2003
K. A. Jellinger

Rett syndrome is a progressive, usually sporadic and rarely familial, disabling neurodevelopmental disorder with onset in early childhood presenting clinically with mental retardation, behavioral changes, late movement disturbances, loss of speech and hand skills, ataxia, apraxia, irregular breathing with hyperventilation while awake, and frequent seizures. It occurs almost exclusively in femal...

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