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Browsing by Author Kahler, S. G.


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Showing results 1 to 8 of 8
Issue DateTitleAuthor(s)RelationscopusWOSFulltext/Archive link
2000Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disordersShen, J. J.; Matern, D.; Millington, D. S.; Hillman, S.; Feezor, M. D.; Bennett, M. J.; Qumsiyeh, M.; Kahler, S. G.; Chen, Y. T.; Van Hove, J. L.J Inherit Metab Dis 23, 27-44
1991Brain abscess in glycogen storage disease type IbPark, H. K.; Kahler, S. G.; Chen, Y. T.Acta Paediatr Scand 80, 1103-1106
1996Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndromeWang, M.; Kishnani, P.; Decker-Phillips, M.; Kahler, S. G.; Chen, Y. T.; Godfrey, M.J Med Genet 33, 760-763
2001Hepatic storage of glycogen in Niemann-Pick disease type BSmith, W. E.; Kahler, S. G.; Frush, D. P.; Milov, D. E.; Gottfried, M. R.; Chen, Y. T.J Pediatr 138, 946-948
1992Low plasma citrulline concentrations during protein restriction in an unaffected infant at risk for ornithine transcarbamylase deficiencyIafolla, A. K.; Kahler, S. G.; Chen, Y. T.J Pediatr 120, 496-497
1993Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in bloodVan Hove, J. L.; Zhang, W.; Kahler, S. G.; Roe, C. R.; Chen, Y. T.; Terada, N.; Chace, D. H.; Iafolla, A. K.; Ding, J. H.; Millington, D. S.Am J Hum Genet 52, 958-966
1989Mild cystic fibrosis linked to chromosome 7q22 markers with an uncommon haplotypeMcConkie-Rosell, A.; Chen, Y. T.; Harris, D.; Speer, M. C.; Pericak-Vance, M. A.; Ding, J. H.; Highsmith, W. E.; Knowles, M.; Kahler, S. G.Ann Intern Med 111, 797-801
1992Unbalanced translocation 46,XY,-15,+der(22)t(1522)(q13q11)pat: case report and review of the literatureVan Hove, J. L.; McConkie-Rosell, A.; Chen, Y. T.; Iafolla, A. K.; Lanman Jr., J. T.; Hennessy, M. D.; Kahler, S. G.Am J Med Genet 44, 24-30
Showing results 1 to 8 of 8
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