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The Journal of Biological Chemistry|February 25, 1993
3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL). Cloning of human and chicken liver HL cDNAs and characterization of a mutation causing human HL deficiencyG A Mitchell, M F Robert, P W Hruz, et al.Hepatology (Baltimore, Md.)|September 11, 2012
Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrateGeorge A Diaz, Lauren S Krivitzky, Masoud Mokhtarani, et al.Human Molecular Genetics|July 13, 1999
Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesisS M Houten, G J Romeijn, J Koster, et al.Neurology|May 14, 2003
Clinical spectrum of succinic semialdehyde dehydrogenase deficiencyP L Pearl, K M Gibson, M T Acosta, et al.Journal of Inherited Metabolic Disease|December 18, 2008
Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemiaR Bonilla Guerrero, L A Wolfe, N Payne, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 16, 2014
Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorderBrendan Lee, George A Diaz, William Rhead, et al.Nature Genetics|September 7, 2001
Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenaseB M Hogema, M Gupta, H Senephansiri, et al.Journal of Neurochemistry|June 18, 2002
Focal neurometabolic alterations in mice deficient for succinate semialdehyde dehydrogenaseK M Gibson, D S M Schor, M Gupta, et al.Prenatal Diagnosis|March 17, 2000
Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Delta(7)-reductase activity in chorionic villiL M Linck, S J Hayflick, D S Lin, et al.European Journal of Human Genetics : EJHG|April 21, 2001
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndromeS M Houten, J Koster, G J Romeijn, et al.Pageof 25