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Biochimica Et Biophysica Acta|April 12, 1996
Non-rhizomelic and rhizomelic chondrodysplasia punctata within a single complementation groupA M Motley, H F Tabak, J A Smeitink, et al.American Journal of Medical Genetics. Part A|April 21, 2004
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an updatePeter G Barth, Fredoen Valianpour, Valerie M Bowen, et al.Journal of Inherited Metabolic Disease|January 1, 1994
Chondrodysplasia punctata with a mild clinical courseJ M Nuoffer, J P Pfammatter, A Spahr, et al.Human Molecular Genetics|August 24, 2005
Bezafibrate increases very-long-chain acyl-CoA dehydrogenase protein and mRNA expression in deficient fibroblasts and is a potential therapy for fatty acid oxidation disordersF Djouadi, F Aubey, D Schlemmer, et al.Hepatology (Baltimore, Md.)|March 30, 2007
Bile acid treatment alters hepatic disease and bile acid transport in peroxisome-deficient PEX2 Zellweger miceMegan H Keane, Henk Overmars, Thomas M Wikander, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|August 15, 1990
Human liver L-alanine-glyoxylate aminotransferase: characteristics and activity in controls and hyperoxaluria type I patients using a simple spectrophotometric methodR J Wanders, J Ruiter, C W van Roermund, et al.Journal of Lipid Research|December 20, 1999
Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activitiesE C de Vet, L Ijlst, W Oostheim, et al.Anticancer Research|April 12, 2012
Histopathological classification of pseudomyxoma peritonei and the prognostic importance of PINCH proteinHåkan Andréasson, Alkwin Wanders, Xiao-Feng Sun, et al.Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences|April 5, 2011
Validation of high-performance liquid chromatography-tandem mass spectrometry assays for the quantification of eribulin (E7389) in various biological matricesA C Dubbelman, H Rosing, B Thijssen, et al.Journal of the Neurological Sciences|February 13, 2001
Defective metabolism of leukotriene B4 in the Sjögren-Larsson syndromeM A Willemsen, J J Rotteveel, J G de Jong, et al.Pageof 133