نتایج جستجو برای: neurometabolic

تعداد نتایج: 416  

2001
Sergio E. Starkstein Janus L. Kremer

The aging process is associated with a progressive cognitive decline, but both the extent of this decline and the profile of age-related cognitive changes remain to be clearly established. Currently, cognitive deficits associated with aging may be diagnosed under the categories of age-associated memory impairment, age-associated cognitive impairment, or the Diagnostic and Statistical Manual of ...

Journal: :Annals of neurology 2000
M C Bianchi M Tosetti F Fornai M G Alessandri' P Cipriani G De Vito R Canapicchi

We describe a new creatine metabolism disorder in 2 young sisters who suffered from mental retardation and severe language delay. Blood examination, investigation of the most common neurometabolic disorders, and brain magnetic resonance imaging were normal. Diagnosis was established only by means of in vivo proton magnetic resonance spectroscopy, which disclosed generalized depletion of creatin...

Journal: :The journal of pediatric academy 2023

Biotinidase (BTD) enzyme deficiency is a congenital metabolic disorder with autosomal recessive inheritance. Main symptoms in its are nervous system and skin manifestations. A 15-month-old patient who was diagnosed Li-Campeau syndrome, also BTD his clinic rapidly improved biotin treatment. With the awareness of different clinical presentations deficiency, patients presenting raising suspicion t...

Journal: :International Journal of Endocrinology 2012

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