منابع مشابه
Exome 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 کاملclinical 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 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 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...
متن کاملThe Analysis of Genetic Aberrations in Children with Inherited Neurometabolic and Neurodevelopmental Disorders
Inherited encephalopathies include a broad spectrum of heterogeneous disorders. To provide a correct diagnosis, an integrated approach including genetic testing is warranted. We report seven patients with difficult to diagnose inborn paediatric encephalopathies. The diagnosis could not be attained only by means of clinical and laboratory investigations and MRI. Additional genetic testing was re...
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ژورنال
عنوان ژورنال: Neurology: Clinical Practice
سال: 2016
ISSN: 2163-0402,2163-0933
DOI: 10.1212/cpj.0000000000000266