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Volumn 51, Issue 1, 2014, Pages 181-182
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Prenatal multicystic encephalopathy in isolated sulfite oxidase deficiency with a novel mutaion
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Author keywords
[No Author keywords available]
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Indexed keywords
SULFITE OXIDASE;
OXIDOREDUCTASE;
STOP CODON;
SUOX PROTEIN, HUMAN;
BRAIN DISEASE;
CASE REPORT;
CONGENITAL INFECTION;
ECHOGRAPHY;
ENCEPHALOMALACIA;
ENZYME DEFICIENCY;
FEMALE;
GENE MUTATION;
HUMAN;
LEUKOENCEPHALOPATHY;
METABOLIC DISORDER;
MISSENSE MUTATION;
MULTICYSTIC ENCEPHALOPATHY;
NONSENSE MUTATION;
NOTE;
PRIORITY JOURNAL;
BRAIN;
CISTERNA MAGNA;
COMPLICATION;
DEFICIENCY;
DISORDERS OF AMINO ACID AND PROTEIN METABOLISM;
FETUS ECHOGRAPHY;
GENETICS;
INFANT;
LEUKOENCEPHALOPATHIES;
NUCLEAR MAGNETIC RESONANCE IMAGING;
STOP CODON;
AMINO ACID METABOLISM, INBORN ERRORS;
BRAIN;
CISTERNA MAGNA;
CODON, NONSENSE;
FEMALE;
HUMANS;
INFANT;
LEUKOENCEPHALOPATHIES;
MAGNETIC RESONANCE IMAGING;
OXIDOREDUCTASES ACTING ON SULFUR GROUP DONORS;
SULFITE OXIDASE;
ULTRASONOGRAPHY, PRENATAL;
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EID: 84902482987
PISSN: 08878994
EISSN: 18735150
Source Type: Journal
DOI: 10.1016/j.pediatrneurol.2014.03.010 Document Type: Article |
Times cited : (14)
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References (4)
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