منابع مشابه
clinical neurophysiology in pediatric neurometabolic disorders
how to cite this article: mohammadi m. clinical neurophysiology in pediatric neurometabolic disorders. iran j child neurol autumn 2014;8:4 (suppl.1):7. pls see pdf.
متن کاملExome Sequencing and the Management of Neurometabolic Disorders.
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...
متن کاملneurometabolic disorders, clinical and neuroimaging finding
how to cite this article: jafari n. neurometabolic disorders, clinical and neuroimaging finding. iran j child neurol. autumn 2014;8;4(suppl.1):23. pls see pdf.
متن کاملSleep Disorders in Childhood Neurogenetic Disorders
enetic advances in the past three decades have transformed our understanding and treatment of many human diseases including neurogenetic disorders. Most neurogenetic disorders can be classified as "rare disease," but collectively neurogenetic disorders are not rare and are commonly encountered in general pediatric practice. The authors decided to select eight relatively well-known neurogenetic ...
متن کاملNeurometabolic Disease: Case Report
Introduction Canavan disease (CD) is a type of vacuolating leukodystrophy with autosomal recessive inheritance (1). This neurodegenerative disorder is caused by a defect in the aspartoacylase (ASPA) gene encoding the critical enzyme aspartoacylase, which has the role of hydrolyzing N-acetyl-L-aspartic acid (NAA) and providing the acetyl group to oligodendrocytes for myelin synthesis (2, 3). Asp...
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ژورنال
عنوان ژورنال: Journal of Clinical Pathology
سال: 1964
ISSN: 0021-9746
DOI: 10.1136/jcp.17.6.693-d