| pubmed-article:17720198 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:17720198 | lifeskim:mentions | umls-concept:C0022541 | lld:lifeskim |
| pubmed-article:17720198 | lifeskim:mentions | umls-concept:C0752125 | lld:lifeskim |
| pubmed-article:17720198 | lifeskim:mentions | umls-concept:C0332140 | lld:lifeskim |
| pubmed-article:17720198 | pubmed:issue | 1-2 | lld:pubmed |
| pubmed-article:17720198 | pubmed:dateCreated | 2007-12-7 | lld:pubmed |
| pubmed-article:17720198 | pubmed:abstractText | Spinocerebellar ataxias are a group of autosomal dominant cerebellar degenerative disorders, which are characterized by clinical and genetic variability. Spinocerebellar ataxia type 7 (SCA7) is less variable in clinical presentation than other SCAs. We present a pediatric patient with 13 and 70 trinucleotide CAG repeats within SCA7 gene and no family history, whose presentation mimicked Kearns-Sayre syndrome (KSS). We review the differential diagnosis of cerebellar ataxia with vision loss secondary to retinal pigmentary dystrophy. This paper supports concept of a desirable clinical diagnosis to avoid multiple genetic or invasive testing in children with neurodegenerative disorders. | lld:pubmed |
| pubmed-article:17720198 | pubmed:language | eng | lld:pubmed |
| pubmed-article:17720198 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17720198 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:17720198 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17720198 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17720198 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:17720198 | pubmed:month | Jan | lld:pubmed |
| pubmed-article:17720198 | pubmed:issn | 0022-510X | lld:pubmed |
| pubmed-article:17720198 | pubmed:author | pubmed-author:MarksHarold... | lld:pubmed |
| pubmed-article:17720198 | pubmed:author | pubmed-author:GuptaSurya... | lld:pubmed |
| pubmed-article:17720198 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:17720198 | pubmed:day | 15 | lld:pubmed |
| pubmed-article:17720198 | pubmed:volume | 264 | lld:pubmed |
| pubmed-article:17720198 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:17720198 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:17720198 | pubmed:pagination | 173-6 | lld:pubmed |
| pubmed-article:17720198 | pubmed:dateRevised | 2009-11-19 | lld:pubmed |
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| pubmed-article:17720198 | pubmed:year | 2008 | lld:pubmed |
| pubmed-article:17720198 | pubmed:articleTitle | Spinocerebellar ataxia type 7 mimicking Kearns-Sayre syndrome: a clinical diagnosis is desirable. | lld:pubmed |
| pubmed-article:17720198 | pubmed:affiliation | Section of Child Neurology, Department of Pediatrics, Temple University School of Medicine, Philadelphia, Pennsylvania 19140, USA. suryangupta@rediffmail.com | lld:pubmed |
| pubmed-article:17720198 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:17720198 | pubmed:publicationType | Case Reports | lld:pubmed |
| entrez-gene:6314 | entrezgene:pubmed | pubmed-article:17720198 | lld:entrezgene |
| http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:17720198 | lld:entrezgene |
