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Journal of Human Genetics|February 1, 2003
A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiencyRoel J P Smeets, Jan A M Smeitink, Ben A Semmekrot, et al.
British Journal of Cancer|February 1, 1996
Phase II clinical trials with rhizoxin in breast cancer and melanoma. The EORTC Early Clinical Trials GroupA R Hanauske, G Catimel, S Aamdal, et al.
European Radiology|May 5, 2021
Impact of artificial intelligence support on accuracy and reading time in breast tomosynthesis image interpretation: a multi-reader multi-case studySuzanne L van Winkel, Alejandro Rodríguez-Ruiz, Linda Appelman, et al.
Clinical Nutrition (Edinburgh, Scotland)|March 9, 2022
Fatty acids in multiple circulating lipid fractions reflects the composition of liver triglycerides in humansFredrik Rosqvist, Michael Fridén, Johan Vessby, et al.
Analytical Biochemistry|February 22, 2001
Synthesis and intramitochondrial levels of valproyl-coenzyme A metabolitesM F Silva, J P Ruiter, L IJlst, et al.
Pediatric Research|January 7, 2000
Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancyA M Innes, L E Seargeant, K Balachandra, et al.
American Journal of Human Genetics|August 24, 2001
Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesisH R Waterham, J Koster, G J Romeijn, et al.
Journal of Inherited Metabolic Disease|December 21, 2010
Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenaseStinne P Schmidt, Thomas J Corydon, Christina B Pedersen, et al.
Progress in Clinical and Biological Research|January 1, 1990
Genetic relationship between the Zellweger syndrome and other peroxisomal disorders characterized by an impairment in the assembly of peroxisomesJ M Tager, S Brul, E A Wiemer, et al.
Frontiers in Medicine|January 27, 2022
Hepatic Unsaturated Fatty Acids Are Linked to Lower Degree of Fibrosis in Non-alcoholic Fatty Liver DiseaseMichael Fridén, Fredrik Rosqvist, Håkan Ahlström, et al.
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