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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
10
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pubmed:dateCreated |
1999-10-18
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pubmed:abstractText |
The authors describe two cases of isolated sulfite oxidase deficiency found in one family. This is a rare autosomal-recessive disorder presenting at birth with seizures, severe neurologic disease, and ectopia lentis. It can be easily missed with metabolic screening; however, the finding of lens subluxation stresses the importance of ophthalmic assessment in making the diagnosis.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
0161-6420
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
106
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1957-61
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:10519592-Alleles,
pubmed-meshheading:10519592-Cells, Cultured,
pubmed-meshheading:10519592-DNA Mutational Analysis,
pubmed-meshheading:10519592-Family,
pubmed-meshheading:10519592-Fibroblasts,
pubmed-meshheading:10519592-Humans,
pubmed-meshheading:10519592-Infant, Newborn,
pubmed-meshheading:10519592-Lens Subluxation,
pubmed-meshheading:10519592-Magnetic Resonance Imaging,
pubmed-meshheading:10519592-Male,
pubmed-meshheading:10519592-Metabolism, Inborn Errors,
pubmed-meshheading:10519592-Nervous System Diseases,
pubmed-meshheading:10519592-Oxidoreductases Acting on Sulfur Group Donors,
pubmed-meshheading:10519592-Pedigree,
pubmed-meshheading:10519592-Point Mutation,
pubmed-meshheading:10519592-Seizures
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pubmed:year |
1999
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pubmed:articleTitle |
Isolated sulfite oxidase deficiency: review of two cases in one family.
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pubmed:affiliation |
Department of Ophthalmology, University of Alberta, Edmonton, Canada.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Case Reports,
Research Support, Non-U.S. Gov't
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