نتایج جستجو برای: neurometabolic disorders
تعداد نتایج: 671446 فیلتر نتایج به سال:
This chapter critically reviews brain proton magnetic resonance spectroscopy ((1)H MRS) studies performed since 1994 in individuals with alcohol use disorders (AUD). We describe the neurochemicals that can be measured in vivo at the most common magnetic field strengths, summarize our knowledge about their general brain functions, and briefly explain some basic human (1)H MRS methods. Both cross...
BACKGROUND Metabolic stroke is the rapid onset of lasting central neurological deficit associated with decompensation of an underlying metabolic disorder. Glutaric aciduria type I (GA1) is an inherited disorder of lysine and tryptophan metabolism presenting with metabolic stroke in infancy. The clinical presentation includes bilateral striatal necrosis and spontaneous subdural and retinal hemor...
Attention-deficit hyperactivity disorder (ADHD) is a common neurodevelopmental disorder. In an attempt to extend earlier neurochemical findings, we organized a magnetic resonance spectroscopy (MRS) study as part of a large, government-funded, prospective, randomized, multicenter clinical trial comparing the effectiveness of specific psychotherapy with counseling and stimulant treatment with pla...
nieman-pick disease type c is a rare, autosomal recessive, neurometabolic disorder associated with the accumulation of unesterified cholesterol in lysosomes and late endosomes. because of multiple organ involvement and wide range of clinical manifestations, these patients will demand multiple diagnostic and therapeutic procedures requiring anesthesia. sincepathogenesis of this disease is still ...
The genetic diagnosis of epilepsy has become feasible and should help the clinical practice of epilepsy. Epilepsy syndromes where genetic diagnosis is applicable are still limited in number though the list of such epilepsy syndromes including progressive myoclonic epilepsies (PME ) , Dravet syndrome and other familial idiopathic epilepsies is now growing. For the diagnosis of epilepsy, genotypi...
Objectives. We aimed to test the hypothesis that metabolic syndrome (MetS) is significantly associated with cognitive decline (CoD) in elderly adults and further assess whether MetS and inflammation have a significant joint effect on CoD. Methods. Data (n = 2975) from the U.S. National Health and Nutrition Examination Survey (1999-2002) in participants aged ≥60 years who had Digit Symbol Substi...
Cytochrome c oxidase (COX) deficiency is a frequent biochemical abnormality in mitochondrial disorders, but a large fraction of cases remains genetically undetermined. Whole-exome sequencing led to the identification of APOPT1 mutations in two Italian sisters and in a third Turkish individual presenting severe COX deficiency. All three subjects presented a distinctive brain MRI pattern characte...
Congenital disorders of glycosylation type I (CDG-I) form a growing group of recessive neurometabolic diseases. Identification of disease genes is compromised by the enormous heterogeneity in clinical symptoms and the large number of potential genes involved. Until now, gene identification included the sequential application of biochemical methods in blood samples and fibroblasts. In geneticall...
how to cite this article: karimzadeh p, jafari n, jabbehdari s, taghdiri mm, nemati h, saket s, alaee mr, ghofrani m, tonakebni sh. methylmalonic acidemia: diagnosis and neuroimaging findings of this neurometabolic disorder (an iranian pediatric case series). iran j child neurol. 2013 summer; 7(3): 63-66. objective methylmalonic acidemia is one of the inborn errors of metabolism resulting in ...
In humans, the concerted action of at least 13 different peroxisomal PEX proteins is needed for proper peroxisome biogenesis. Mutations in any of these PEX genes can lead to lethal neurometabolic disorders of the Zellweger syndrome spectrum (ZSS). Previously, we identified the W313G mutation located within the SH3 domain of the peroxisomal protein, PEX13. As this tryptophan residue is highly co...
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