Issue Date | Title | Author(s) | Relation | scopus | WOS | Fulltext/Archive link |
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2003 | Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening | Koeberl, D. D.; Young, S. P.; Gregersen, N. S.; Vockley, J.; Smith, W. E.; Benjamin, D. K.; An, Y.; Weavil, S. D.; Chaing, S. H.; Bali, D.; McDonald, M. T.; Kishnani, P. S.; Chen, Y. T.; Millington, D. S. | Pediatr Res 54, 219-223 | |||
2007 | Sibling phenotype concordance in classical infantile Pompe disease | Smith, W. E.; Sullivan-Saarela, J. A.; Li, J. S.; Cox, G. F.; Corzo, D.; Chen, Y. T.; Kishnani, P. S. | Am J Med Genet A 143A(21), 2493-501 |