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European Journal of Pediatrics|August 1, 1997
Protein turnover in critically ill childrenO A Bodamer, J V Leonard, R C Tasker, et al.
American Journal of Medical Genetics|October 21, 1999
Somatic mosaicism of a greater than 1.7-Mb deletion of genomic DNA involving the entire NF1 gene as verified by FISH: further evidence for a contiguous gene syndrome in 17q11.2B Streubel, E Latta, H Kehrer-Sawatzki, et al.
Pediatric Research|April 1, 1997
Regulatory adaptation of isoprenoid biosynthesis and the LDL receptor pathway in fibroblasts from patients with mevalonate kinase deficiencyG F Hoffmann, U N Wiesmann, S Brendel, et al.
The Journal of Biological Chemistry|July 19, 1996
Molecular cloning of human phosphomevalonate kinase and identification of a consensus peroxisomal targeting sequenceK L Chambliss, C A Slaughter, R Schreiner, et al.
AMIA ... Annual Symposium Proceedings. AMIA Symposium|June 17, 2006
Giving them a good start: informatics support of newborn screening and clinical careT Wetter, I Haschler, S Ho, et al.
Journal of Inherited Metabolic Disease|January 1, 1993
Physiology and pathophysiology of organic acids in cerebrospinal fluidG F Hoffmann, W Meier-Augenstein, S Stöckler, et al.
Journal of Inherited Metabolic Disease|November 8, 2003
Towards quality assurance in the determination of lysosomal enzymes: a two-centre studyZ Lukacs, A Keil, V Peters, et al.
Biochemical and Biophysical Research Communications|February 17, 1998
Characterization of the mevalonate kinase 5'-untranslated region provides evidence for coordinate regulation of cholesterol biosynthesisR W Bishop, K L Chambliss, G F Hoffmann, et al.
Journal of Inherited Metabolic Disease|January 7, 2004
Phenylalanine can be detected in brain tissue of healthy subjects by 1H magnetic resonance spectroscopyJ Pietz, T Lutz, K Zwygart, et al.
International Journal of Endocrinology|September 10, 2011
Moderate weight reduction in an outpatient obesity intervention program significantly reduces insulin resistance and risk factors for cardiovascular disease in severely obese adolescentsJ Grulich-Henn, S Lichtenstein, F Hörster, et al.
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