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Archives of Disease in Childhood|December 1, 1982
Liver disease in IndiaS A Bhave, A N Pandit, A M Pradhan, et al.
Journal of Inherited Metabolic Disease|August 21, 2007
High frequency of missense mutations in glycogen storage disease type VIN J Beauchamp, J Taybert, M P Champion, et al.
Gastroenterology|August 1, 1980
Observer variation in assessment of liver biopsies including analysis by kappa statisticsA Theodossi, A M Skene, B Portmann, et al.
American Journal of Human Genetics|October 27, 1997
Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24S S Strautnieks, A F Kagalwalla, M S Tanner, et al.
Journal of Inherited Metabolic Disease|May 11, 1999
The allopurinol load test lacks specificity for primary urea cycle defects but may indicate unrecognized mitochondrial diseaseJ R Bonham, P Guthrie, M Downing, et al.
Journal of Inherited Metabolic Disease|April 5, 2001
Features of carnitine palmitoyltransferase type I deficiencyS E Olpin, J Allen, J R Bonham, et al.
Nature Genetics|November 7, 1998
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasisS S Strautnieks, L N Bull, A S Knisely, et al.
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