نتایج جستجو برای: neurometabolic disorders
تعداد نتایج: 671446 فیلتر نتایج به سال:
PURPOSE To examine the characteristics of epilepsy in children with neurometabolic disorders to reveal co morbidities and optimal treatment. METHODS We retrospectively reviewed the files of children diagnosed with a neurometabolic disorder and treated at Jordan University Hospital between 2001 and 2012. We examined the incidence, age at onset, clinical characteristics, and medical control of ...
The purpose of this review is to illustrate the wide spectrum of lesions in the corpus callosum, both congenital and acquired: developmental abnormalities, phakomatoses, neurometabolic disorders, demyelinating diseases, infection and inflammation, vascular lesions, neoplasms, traumatic and iatrogenic injury, and others. Cases include fetuses, children, and adults with rich iconography from the ...
Behavioral neurology has been bridging the gap between neurology and psychiatry in children. There are several neuropsychiatric disorders of children in which aggression is a dominant symptom. Both global disorders like attention deficit hyperactivity disorder as well as localized dysfunction of the brain may lead to aggression. A number of neurometabolic disorders as well as post-epileptic and...
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...
Organic acidurias are an important group of inherited metabolic disorders that affect the intermediary metabolic pathways of carbohydrate, amino acid, and fatty acid oxidation, leading to the accumulation of organic acids.(1) The 2-hydroxyglutaric acidurias are rare neurometabolic disorders characterized by developmental delay with or without other neurologic dysfunction. Three different subtyp...
BACKGROUND Whole-exome sequencing has transformed gene discovery and diagnosis in rare diseases. Translation into disease-modifying treatments is challenging, particularly for intellectual developmental disorder. However, the exception is inborn errors of metabolism, since many of these disorders are responsive to therapy that targets pathophysiological features at the molecular or cellular lev...
Aromatic L-Amino acid decarboxylase (AADC) deficiency is a rare neurometabolic disorder due to homozygous or compound heterozygous pathogenic variant of the DDC gene, resulting in low synthesis biogenic amines dopamine, serotonin, epinephrine, and norepinephrine. Most patients had severe expression disease with global developmental delay, early hypotonia, movement disorders such as oculogyric c...
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