Prenatal Multicystic Encephalopathy in Isolated Sulfite Oxidase Deficiency With a Novel Mutaion

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Bibliographic Details
Published in:Pediatric neurology 2014-07, Vol.51 (1), p.181-182
Main Authors: Chen, Li-Wen, MD, Tsai, Yi-Shan, MD, Huang, Chao-Ching, MD
Format: Article
Language:English
Subjects:
Amino Acid Metabolism, Inborn Errors - complications
Amino Acid Metabolism, Inborn Errors - genetics
Brain - abnormalities
Brain - pathology
Cisterna Magna - diagnostic imaging
Codon, Nonsense - genetics
Female
Humans
Infant
Leukoencephalopathies - etiology
Leukoencephalopathies - genetics
Magnetic Resonance Imaging
Neurology
Oxidoreductases Acting on Sulfur Group Donors - genetics
Pediatrics
Sulfite Oxidase - deficiency
Sulfite Oxidase - genetics
Ultrasonography, Prenatal
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ISSN:0887-8994
1873-5150
DOI:10.1016/j.pediatrneurol.2014.03.010