Author:
Haas Dorothea,Hoffmann Georg F
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics (clinical),General Medicine
Reference27 articles.
1. Hoffmann G, Gibson KM, Brandt IK, Bader PI, Wappner RS, Sweetman L: Mevalonic aciduria – an inborn error of cholesterol and nonsterol isoprene biosynthesis. N Engl J Med. 1986, 314: 1610-1614.
2. Gibson KM, Hoffmann GF, Tanaka RD, Bishop RW, Chambliss KL: Mevalonate kinase map position 12q24. Chromosome research. 1997, 5: 150-10.1023/A:1018430527386.
3. Simon A, Kremer HP, Wevers RA, Scheffer H, De Jong JG, Van Der Meer JW, Drenth JP: Mevalonate kinase deficiency – Evidence for a phenotypic continuum. Neurology. 2004, 62: 994-997.
4. Hoffmann GF, Charpentier C, Mayatepek E, Mancini J, Leichsenring M, Gibson KM, Divry P, Hrebicek M, Lehnert W, Sartor K, et al: Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. Pediatrics. 1993, 91: 915-921.
5. Prietsch V, Mayatepek E, Krastel H, Haas D, Zundel D, Waterham HR, Wanders RJ, Gibson KM, Hoffmann GF: Mevalonate kinase deficiency -enlarging the clinical and biochemical spectrum. Pediatrics. 2003, 111: 258-261. 10.1542/peds.111.2.258.
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