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

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Bibliographische Detailangaben
Veröffentlicht in:	Pediatric neurology 2014-07, Vol.51 (1), p.181-182
Hauptverfasser:	Chen, Li-Wen, MD, Tsai, Yi-Shan, MD, Huang, Chao-Ching, MD
Format:	Artikel
Sprache:	eng
Schlagworte:	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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