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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
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pubmed:dateCreated |
1995-10-11
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pubmed:abstractText |
Using Western blot analysis and the ELISA technique, we showed previously significantly higher levels of subunit c in the urine of individuals with late-infantile neuronal ceroid lipofuscinosis (LINCL) and some patients with juvenile NCL (JNCL) [Wisniewski et al., J. Inherited Metab Dis 17: 205-210, 1994]. In an attempt to develop a diagnostic screening test for NCL based on detection of this biochemical marker in urine, we analyzed, using the blotting technique, urine from 7 infantile NCL (INCL), 17 LINCL, and 19 JNCL cases, 30 obligate heterozygotes, and 60 control cases. This analysis confirmed our former data showing significantly higher levels of subunit c in the urine from all LINCL and some JNCL cases. No false positive results were found. This simple analytical method may serve as a fast, non-invasive screening test for NCL.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
0148-7299
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:day |
5
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pubmed:volume |
57
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
246-9
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:7668339-Adolescent,
pubmed-meshheading:7668339-Blotting, Western,
pubmed-meshheading:7668339-Enzyme-Linked Immunosorbent Assay,
pubmed-meshheading:7668339-Heterozygote Detection,
pubmed-meshheading:7668339-Humans,
pubmed-meshheading:7668339-Infant,
pubmed-meshheading:7668339-Macromolecular Substances,
pubmed-meshheading:7668339-Mass Screening,
pubmed-meshheading:7668339-Microscopy, Immunoelectron,
pubmed-meshheading:7668339-Neuronal Ceroid-Lipofuscinoses,
pubmed-meshheading:7668339-Nuclear Family,
pubmed-meshheading:7668339-Proton-Translocating ATPases,
pubmed-meshheading:7668339-Reference Values,
pubmed-meshheading:7668339-Reproducibility of Results
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pubmed:year |
1995
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pubmed:articleTitle |
Rapid detection of subunit c of mitochondrial ATP synthase in urine as a diagnostic screening method for neuronal ceroid-lipofuscinoses.
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pubmed:affiliation |
New York State Institute for Basic Research in Developmental Disabilities, Department of Pathological Neurobiology, Staten Island 10314, USA.
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pubmed:publicationType |
Journal Article,
Comparative Study
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