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pubmed-article:7668339pubmed:abstractTextUsing 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.lld:pubmed
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pubmed-article:7668339pubmed:articleTitleRapid detection of subunit c of mitochondrial ATP synthase in urine as a diagnostic screening method for neuronal ceroid-lipofuscinoses.lld:pubmed
pubmed-article:7668339pubmed:affiliationNew York State Institute for Basic Research in Developmental Disabilities, Department of Pathological Neurobiology, Staten Island 10314, USA.lld:pubmed
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